Copy Number Variant (CNV) Summaries - Microarray
CNV Summaries
Compiled up-to-date summaries of the most common Copy Number Variations (CNVs). To better understand the clinical variability of CNVs, the Prenatal Microarray Follow-up Study is working to study CNVs diagnosed in children prenatally by following those children over a three-year period.
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1p36 deletion
Developmental delays and intellectual disabilities are present in all children with 1p36 deletions and typically range from moderate to profound. Speech and language problems are common, and about 75% of individuals with 1p36 deletion are non-verbal. Behavior problems are frequently noted and can include social impairment, poor temper control, aggression, and repetitive movements. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Several other medical problems can be caused by 1p36 deletions. Seizures occur in about half of individuals. Physical malformations (birth defects) can occur in multiple organs, including structural brain abnormalities, congenital heart problems, eye/vision problems, skeletal abnormalities, external genitalia abnormalities, and kidney problems. Hearing loss and hypothyroidism can occur. The following rare medical problems have been reported: small spleen size, skin lesions of small blood vessels (telangiectasia), extra fingers or toes (polydactyly), congenital spinal stenosis, intestinal malrotation, narrowing of a section of the stomach (pyloric stenosis), incomplete anal opening (imperforate anus), and nerve tissue tumors (neuroblastoma). Although facial features associated with the 1p36 deletion vary between individuals, most children have a distinctive appearance characterized by small head size (microcephaly), straight eyebrows, deep-set eyes, a pointed chin, a distinct ear shape, and a wide, depressed nasal bridge.
http://www.ncbi.nlm.nih.gov/books/NBK1191/
http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNW.pdf
https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome
Developmental delays and intellectual disabilities are common in children with 1q21.1 deletions and typically range from mild to moderate. Behavioral and psychiatric problems are common, including in adults, and may include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, sleep disturbances, anxiety disorder, or other mental health problems. Other medical problems that can be caused by 1q21.1 deletions include congenital heart problems, kidney and urinary tract problems, seizures, and eye abnormalities. Although facial features associated with 1q21.1 deletion vary between individuals and most individuals look like their other family members, some common facial features include a somewhat prominent forehead, deep-set eyes, and small head size (microcephaly).
http://www.ncbi.nlm.nih.gov/books/NBK52787/
http://www.rarechromo.org/information/Chromosome%20%201/1q21.1%20microdeletions%20FTNW.pdf
http://www.nejm.org/doi/full/10.1056/NEJMoa0805384
http://www.simonsvipconnect.org
https://ghr.nlm.nih.gov/condition/1q211-microdeletion
Developmental delay and intellectual disabilities are common and typically range from mild to moderate; however, these are not present in all children with 1q21.1 duplication. Speech and language problems, autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), anxiety disorder, and other behavioral or mental health problems may be present. Other medical problems that can be caused by 1q21.1 duplication include congenital heart problem and seizures, and less commonly curving of the spine (scoliosis), vision problems, and minor genitalia abnormalities. Although facial features associated with 1q21.1 duplication vary between individuals and most individuals look like their other family members, some common facial features include wide spaced eyes, prominent forehead, and large head size (macrocephaly).
http://www.rarechromo.org/information/Chromosome%20%201/1q21.1%20microduplications%20FTNW.pdf
http://www.omim.org/entry/612475?search=1q21.1%20duplication&highlight=1q211%20duplication
http://www.simonsvipconnect.org
https://ghr.nlm.nih.gov/condition/1q211-microduplication
Developmental delay and intellectual disabilities are common in children with 2p15p16.1 deletion and typically range from moderate to severe. Most individuals have moderate to severe speech and language delay. Behavioral problems are frequently noted and can include poor social interaction, repetitive behaviors, impulsiveness, inattention and hyperactivity. Some children are diagnosed with autism spectrum disorder or attention deficit hyperactivity disorder (ADHD). Several other medical problems can be caused by 2p15p16.1 deletions. Physical malformations (birth defects) can occur in multiple organs, including congenital heart problems, kidney malformations and cysts, undescended or underdeveloped testes, and foot problems. Feeding difficulties can be caused by a high, arch-shaped roof of the mouth (palate). Although facial features associated with 2p15p16.1 deletion vary between individuals, most children have a distinctive appearance characterized by small head size (microcephaly), a high forehead, a broad nasal bridge, a prominent lower lip, and wide spaced eyes with small, downward-slanted eye openings.
http://omim.org/entry/612513?search=2p15&highlight=2p15
Developmental delays and intellectual disabilities are common in children with 2q33.1 deletions and typically range from mild to severe. Speech and language problems are common, and some individuals are non-verbal. Behavioral problems may include hyperactivity, restlessness, tantrums, aggression, anxiety, sleep difficulties, and poor social interaction. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Feeding difficulties in infancy may occur due to poor control over the muscles in the mouth or a cleft or high, arch-shaped roof of the mouth (palate). Feeding may also be complicated by an increased frequency of gastro-esophageal reflux. Other, less common, medical problems can include genital or urinary system problems, seizures, hernias, slow growth, and eye/vision problems. Although facial features associated with the 2q33.1 deletion vary between individuals, most children have a distinctive appearance characterized by thin and sparse hair, a long face with a small lower jaw, a high forehead, a prominent nose, downward-slanted eye openings, and a small mouth. Some individuals have small hands with long and thin fingers, short thumbs, and the fifth (“pinky”) finger curved inward.
Developmental delays and intellectual disabilities are common in children with 2q37 deletions and typically range from mild to moderate. Speech delays and language problems are present in most children. Behavioral problems are also common, affecting about one third of individuals with 2q37 deletions. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Feeding difficulties in infancy may occur due to poor control over the muscles in the mouth or a cleft or high, arch-shaped roof of the mouth (palate). Feeding is also complicated by an increased frequency of gastro-esophageal reflux. While birth weights tend to be normal, it is common after birth for growth to be slow and result in short stature. Other medical problems can include hernias (both umbilical and inguinal types), curving of the spine (scoliosis), kidney problems, urinary infections, and obesity. Less frequently, congenital heart problems, genital abnormalities in males, hearing loss, and vision problems can occur. Although facial features assoicated with the 2q37 deletion vary between individuals, most children have distinctive appearance characterized by a prominent forehead, arched eyebrows, deep-set eyes, a distinctive nose, and a thin upper lip.
http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNP.pdf
http://www.ncbi.nlm.nih.gov/books/NBK1158/
http://omim.org/entry/600430?search=2q37&highlight=2q37
https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome
Developmental delays and learning disabilities are common in children with 3q29 deletions and are typically in the mild range. Mild speech and language problems are the most common developmental concern. Learning difficulties may be subtle and IQ scores range from 70 to 89 for most individuals. Behavioral and psychiatric problems can occur, such as anxiety disorder, hyperactivity, aggression, autistic features, bipolar disorder, schizophrenia, and other mental health problems. The 3q29 deletion is associated with an increased likelihood for difficulties with social skills and communication. Most individuals are healthy, although congenital heart problems and curving of the spine (scoliosis) can occur. Although facial features associated with the 3q29 deletion vary between individuals and most individuals look like their other family members, some subtle, shared characteristics can include small head size (microcephaly), a long and narrow face, a high nasal bridge, large ears, and facial asymmetry. Some individuals have long curved fingers and a shortened fifth (“pinky”) finger.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226188/
https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome
4pter deletion (Wolf-Hirschhorn syndrome)
Developmental delays and intellectual disabilities are present in all children with 4p deletion that are consistent with Wolf-Hirschhorn syndrome (WHS) and typically range from mild to profound. Speech and language problems are common and most individuals are non-verbal. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Feeding difficulties may occur due to poor control over the muscles in the mouth or a facial cleft or high, arch-shaped roof of the mouth (palate). Feeding may also be complicated by an increased frequency of gastro-esophageal reflux. Several other medical problems can be caused by 4p deletions. Seizures occur in nearly all children with WHS. Physical malformations (birth defects) can occur in multiple organs, including structural brain abnormalities, congenital heart problems, kidney and urinary tract malformations, eye abnormalities, cleft lip and/or roof of the mouth (palate), dental abnormalities, and skeletal abnormalities. Hearing loss and a weak immune system (immunodeficiency) can occur. The following rare medical problems have been reported: tumors in the liver and blood cell abnormalities. Although facial features associated with the 4p deletion vary between individuals, most children have a distinctive appearance characterized by small head size (microcephaly), a distinctly wide nasal bridge that continues into the forehead, wide spaced eyes, a small lower jaw (micrognathia), folds of skin over the inside corners of the eyes (epicanthal folds), and downturned corners of the mouth.
https://www.ncbi.nlm.nih.gov/books/NBK1183/
https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome
5p15.2pter deletion (Cri-du-chat syndrome)
Developmental delays and intellectual disabilities are present in all children with 5p deletion that are consistent with Cri-du-chat syndrome (CDC) and typically range from moderate to profound. Speech and language problems are common and most individuals are non-verbal. Infants often have a high-pitched cry and low birth weight. Behavior problems are frequently noted and can include attention deficit hyperactivity disorder (ADHD), impulsiveness, tantrums and aggression, self-injury, sleep disturbances, and repetitive behaviors. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Feeding difficulties may occur due to poor control over the muscles in the mouth or an increased frequency of gastro-esophageal reflux. Several other medical problems can be caused by 5p deletions. Physical malformations (birth defects) can occur in multiple organs, including structural brain abnormalities, congenital heart problems, kidney and urinary tract malformations, and gastrointestinal tract problems. Seizures and vision problems can occur. Although facial features associated with the 5p deletion vary between individuals, most children have a distinctive appearance characterized by small head size (microcephaly), folds of skin over the inside corners of the eyes (epicanthal folds), low set ears, a small lower jaw (micrognathia), and a rounded face. Some individuals have skin tags and partial webbing or fusion of fingers or toes.
https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
http://omim.org/entry/123450?search=cri%20du%20chat&highlight=du%20cri%20chat
https://rarediseases.info.nih.gov/diseases/6213/5p-minus-syndrome
5q35 deletion (Sotos syndrome)
Developmental delays and intellectual disabilities are common in children with 5q35 deletions and can range from mild to severe. Speech delays and language problems are present in most children. Behavioral problems are also common and may include autism spectrum disorder, phobias, and aggression. Most individuals are large at birth (overgrowth), have a large head size (macrocephaly), and have advanced bone age. Other medical problems that can be caused by 5q35 deletions include congenital heart problems, kidney problems, seizures, eye/vision problems, hearing problems, scoliosis, loose joints, skeletal abnormalities, and slightly increased risk for tumors. Jaundice, poor muscle tone (hypotonia), and feeding problems can occur in the newborn period. Although facial features associated with the 5q35 deletion vary between individuals, most children have a distinctive appearance characterized by a distinctive head shape, a prominent forehead, sparse hair around the forehead, downward-slanted eye openings, and a narrow jaw with a long chin.
https://www.ncbi.nlm.nih.gov/books/NBK1479/
http://omim.org/entry/117550?search=5q35&highlight=5q35
https://ghr.nlm.nih.gov/condition/sotos-syndrome
http://sotossyndrome.org/sotos-syndrome
7q11.23 deletion (Williams syndrome)
Developmental delays and intellectual disabilities are present in most children with 7q11.23 deletions and typically range from mild to severe. Typically, visuo-spatial skills are a particular weakness, and verbal short-term memory and language are relative strengths. Behavioral and psychiatric problems are common and may include difficulty with emotional regulation, phobias, repetitive behaviors, anxiety disorder, attention deficit hyperactivity disorder (ADHD), and sleep problems. Some characteristic personality traits include overfriendliness, social disinhibition, and excessive empathy. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Feeding difficulties in infancy may occur due to poor control over the muscles in the mouth or an increased frequency of gastro-esophageal reflux. Several other medical problems can be caused by 7q11.23 deletions. Physical malformations (birth defects) can occur in multiple organs, including structural brain abnormalities, congenital heart problems, kidney and urinary tract malformations, and gastrointestinal tract problems. Other medical problems can include loose joints, scoliosis, poor growth, eye/vision problems, dental abnormalities, hypertension, high calcium levels (hypercalcemia), and hormonal problems such as hypothyroidism and early puberty. Although facial features associated with the 7q11.23 deletion vary between individuals, most children have a distinctive appearance characterized by a broad forehead, fullness around the eyes, a pattern of pigmentation around the iris of the eye (stellate pattern), thick lips, a wide mouth, a small lower jaw (micrognathia), and large ear lobes. An individual’s face may become longer and less round in adulthood.
https://www.ncbi.nlm.nih.gov/books/NBK1249/
https://ghr.nlm.nih.gov/condition/williams-syndrome
http://omim.org/entry/194050?search=7q11.23%20deletion&highlight=7q1123%20deletion
https://williams-syndrome.org/
Developmental delays and intellectual disabilities are common in children with 7q11.23 duplications with a wide range in severity. Early speech and language problems occur in nearly all children. Behavior problems are also frequently noted and can include autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Medical concerns that can be caused by 7q11.23 duplications include seizures in about 25% and congenital heart problems in 20%. Other, less common medical problems can include vision problems, cleft lip or roof of the mouth (palate), abnormal head/neck position (torticollis), and skeletal abnormalities such as an outward angling of the forearm (cubitus valgus), misalignment of the hip joint (congenital hip dysplasia), or inwardly angled feet (talipes). Although facial features associated with the 7q11.23 duplication vary between individuals, many children have a distinctive appearance characterized by distinctly straight eyebrows, a broad nose, deep-set eyes, a thin upper lip, and a prominent forehead.
http://www.rarechromo.org/information/Chromosome%20%207/7q11.23%20duplication%20syndrome%20FTNP.pdf
https://www.ncbi.nlm.nih.gov/books/NBK327268/
https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome
9q34.3 deletion (Kleefstra syndrome)
Developmental delays and intellectual disabilities are present in all children with 9q34.3 deletions and typically range from moderate to severe. Most individuals have moderate to severe speech and language delay. Behavior problems are frequently noted and can include sleep disturbances, autism spectrum disorder, apathy, and self-injury. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items. Several medical problems can be caused by 9q34.3 deletions, including congenital heart problems, seizures, inwardly angled feet (talipes), external genitalia abnormalities, and kidney problems. Although facial features associated with the 9q34.3 deletion vary between individuals, most children have a distinctive appearance characterized by a small head size (microcephaly), a broad forehead, unusual eyebrows, upward-slanted eye openings, a small nose with flared nostrils, an underdeveloped midface, and a large, protruding lower jaw (prognathism).
https://www.ncbi.nlm.nih.gov/books/NBK47079/
http://www.rarechromo.org/information/Chromosome%20%209/Kleefstra%20Syndrome%20FTNP.pdf
https://ghr.nlm.nih.gov/condition/kleefstra-syndrome#genes
http://omim.org/entry/610253?search=kleefstra&highlight=kleefstra
https://www.kleefstrasyndrome.org/
Developmental delays and intellectual disabilities are common in children with 12q14 deletions and typically range from mild to moderate. Speech delays and language problems are present in most children. Poor muscle tone (hypotonia) can contribute to delays in motor skills like learning to sit, walk, and grasp items, and feeding difficulties in infancy may occur due to poor control over the muscles in the mouth. Other, less common, behavior problems that have been noted include hyperactivity, attention deficit hyperactivity disorder (ADHD), aggression, and autism spectrum disorder. Other medical problems may include congenital heart problems, short stature, skeletal abnormalities, gastro-esophageal reflux, missing or late teeth, curved fifth (“pinky”) fingers, loose joints, and a rare bone disorder where the bones have small areas of increased density (osteopoikilosis). Less frequently, congenital heart problems, eye problems, and kidney disease can occur. Although facial features associated with 12q14 deletion vary between individuals, most children have a distinctive appearance characterized by a prominent forehead, wide spaced eyes, deep-set eyes, long eyelashes, and thin lips.
http://www.rarechromo.org/information/Chromosome%2012/12q14%20microdeletions%20FTNP.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083609/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986596/
Developmental delays and intellectual disabilities are present in all children with 15q24 deletions with a wide range in severity. Speech and language problems are generally severe and some individuals are non-verbal. Poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavioral problems can occur and include attention deficit hyperactivity disorder (ADHD), aggression, autism spectrum disorders. Several medical problems can be caused by 15q24 deletions, including recurrent infections, eye problems in about 50%, and external genitalia abnormalities. Other, less common, medical problems can include hearing loss, hernias, seizures, congenital heart problems, a narrow or missing portion of the intestine (intestinal atresia), and an improperly formed anus (imperforate anus or anorectal malformation). Although facial features associated with the 15q24 deletion vary between individuals, most children have a distinctive appearance characterized by a prominent forehead, high front hairline, deep-set eyes, folds of skin over the inside corners of the eyes (epicanthal folds), a prominent nasal bridge, a small lower jaw (micrognathia), a pointed chin, and a triangular shaped face. Some individuals have short fingers and hand bones, a fifth (“pinky”) finger curved inward, and small or fused toes (syndactyly).
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261729/
http://www.ncbi.nlm.nih.gov/books/NBK84258/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275445
http://omim.org/entry/613406?search=15q24&highlight=15q24
http://www.rarechromo.org/information/Chromosome%2015/15q24%20microdeletion%20syndrome%20FTNP.pdf
https://ghr.nlm.nih.gov/condition/15q24-microdeletion
Developmental delays and intellectual disabilities are common in children with 15q13.3 deletions and typically range from mild to moderate. Speech and language problems are common and may impact expressive language skills more severely than the ability to understand words (receptive language skills). Poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavioral and psychiatric problems are common, including in adults, and may include autistic spectrum disorder, attention deficit hyperactive disorder (ADHD), mood disorder, impulsive or aggressive behavior, and other mental health problems. Seizure disorders are relatively common.
http://www.rarechromo.org/information/Chromosome%2015/15q13.3%20microdeletion%20syndrome%20FTNW.pdf
http://www.ncbi.nlm.nih.gov/books/NBK50780/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986268/
https://ghr.nlm.nih.gov/condition/15q133-microdeletion
Developmental delays and intellectual disabilities are common in children with 16p11.2 deletions and are typically in the mild range. Speech and language problems are common and may impact expressive language skills more severely than the ability to understand words (receptive language skills). Poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavioral and psychiatric problems are common, including in adults, and may include autistic spectrum disorder, attention deficit hyperactive disorder (ADHD), anxiety disorder, bipolar disorder, schizophrenia, or other mental health problems. Other medical problems include seizure disorder in about 25% and a high risk of obesity. Although facial features associated with the 16p11.2 deletion vary between individuals and most individuals look like their other family members, some subtle, shared characteristics can include large head size (macrocephaly), a small lower jaw (micrognathia), wide spaced eyes, a broad forehead, and flattening of cheek bones and nasal bridge.
http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf
http://www.ncbi.nlm.nih.gov/books/NBK11167/
http://www.simonsvipconnect.org
http://omim.org/entry/611913?search=16p11.2&highlight=16p112
https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome
Developmental delays and intellectual disabilities are common in children with 16p11.2 duplications and typically range from mild to moderate; however, some individuals do not have significant delays. Speech and language problems are common, and poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavioral and psychiatric problems are common, including in adults, and may include autistic spectrum disorder, attention deficit hyperactive disorder (ADHD), anxiety disorder, bipolar disorder, schizophrenia, or other mental health problems. Other medical problems include loose joints and slow growth. Although facial features associated with the 16p11.2 duplication vary between individuals, small head size (microcephaly) has been observed in multiple individuals as well as various other subtle facial characteristics.
https://ghr.nlm.nih.gov/condition/16p112-duplication
http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microduplications%20FTNW.pdf
http://www.omim.org/entry/614671?search=16p11.2%20duplication&highlight=16p112%20duplication
http://www.simonsvipconnect.org
Developmental delays and intellectual disabilities are common in children with 17q12 duplications and typically range from mild to severe. Speech and language problems are common, and poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavioral and psychiatric problems may include aggression, self-injury, schizophrenia, and other mental health problems. Other medical problems can include seizures, skeletal abnormalities, eye/visions problems, and kidney problems. Although facial features associated with the 17q12 duplication vary between individuals and most individuals look like their other family members, some subtle, shared characteristics can include upward-slanted eye openings, skin folds over the inside corner of the eyes (epicanthal folds), thick eyebrows with an abundance of hair between brows, and a thin upper lip.
https://ghr.nlm.nih.gov/condition/17q12-duplication
https://www.ncbi.nlm.nih.gov/books/NBK344340/
http://www.rarechromo.org/information/Chromosome%2017/17q12%20microduplications%20FTNP.pdf
Developmental delays and intellectual disabilities are common in children with 17q12 deletions and typically range from mild to moderate. Speech and language problems are common but tend to improve with age. Some individuals have delayed motor skills, especially with fine motor tasks such as grasping objects, drawing, or using scissors. Behavioral and psychiatric problems may include autism spectrum disorder, anxiety disorder, depression, schizophrenia, bipolar disorder, or other mental health problems. Common medical problems include kidney abnormalities, such as kidney malformations and cystic kidneys, and a type of early onset diabetes called MODY5 (maturity onset diabetes of the young, type 5). Other medical problems include problems with the genitalia and internal reproductive organs, slow growth, curving of the spine (scoliosis), increased susceptibility to infections, and vision problems.
https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome
http://www.rarechromo.org/information/Chromosome%2017/17q12%20microdeletions%20FTNW.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978962/
https://www.ncbi.nlm.nih.gov/books/NBK401562/
Developmental delays and intellectual disabilities are common in children with 22q11.2 duplications and typically range from mild to moderate; however, some individuals do not have significant delays. Speech and language problems are common, and poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavioral and psychiatric problems may include autism spectrum disorder, attention deficit hyperactive disorder (ADHD), tantrums, and other mental health problems. Other medical problems include congenital heart problems, conductive hearing loss, weak and/or thin structures in the roof of the mouth (velopharyngeal insufficiency), and genital and urinary system problems. Although facial features associated with the 22q11.2 duplication vary between individuals and most individuals look like their other family members, some subtle, shared characteristics can include wide spaced eyes, a broad nose, a small lower jaw (micrognathia), and folds of skin over the inside corners of the eyes (epicanthal folds).
http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20microduplications%20FTNP.pdf
https://ghr.nlm.nih.gov/condition/22q112-duplication
http://www.ncbi.nlm.nih.gov/books/NBK3823/
http://www.omim.org/entry/608363?search=22q11.2%20duplication&highlight=duplication%2022q112
Developmental delays and learning disabilities are common in children with distal 22q11.2 deletions and are typically in the mild range; however, some individuals do not have significant delays. Speech and language problems are common, and behavioral and mental health problems are more likely. Other medical problems can include congenital heart problems, hearing loss, weak and/or thin structures in the roof of the mouth (velopharyngeal insufficiency), kidney problems, and skeletal abnormalities. Although facial features associated with the distal 22q11.2 deletion vary between individuals and most individuals look like their other family members, some subtle, shared characteristics can include arched eyebrows, deep-set eyes, smoother indent in the upper lip (smooth philtrum), thin upper lip, a distinctive nose, and a small pointed chin.
Developmental delays and intellectual disabilities are common in children with 22q11.2 deletions and typically range from mild to moderate. Speech and language problems are common and may impact expressive language skills more severely than the ability to understand words (receptive language skills). Poor muscle tone (hypotonia) contributes to delays in motor skills like learning to sit, walk, and grasp items. Behavior and psychiatric problems are common and can include social impairment, mood disorders, autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), or other mental health concerns. Schizophrenia develops in 25% of adults with 22q11.2 deletions. Several other medical problems can be caused by 22q11.2 deletions. Congenital heart problems are common, including a variety of structural heart abnormalities, as well as weak and/or thin structures in the roof of the mouth (velopharyngeal insufficiency). Several other medical problems can occur, including cleft roof of the mouth (palate), skeletal abnormalities, kidney problems, low calcium levels (hypocalcemia), seizure disorders, and an abnormal or absent thymus gland which can result in a weak immune system (immunodeficiency). Although facial features associated with the 22q11.2 deletion vary between individuals, most children have a distinctive appearance characterized by wide spaced eyes, outwardly extended ears, a distinctive nose, a long face, a small lower jaw (micrognathia), and facial asymmetry.
http://www.ncbi.nlm.nih.gov/books/NBK1523/
https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome