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. 

Click on the Copy Number Variant (CNV) you'd like to learn more about!

 

1p36 deletion                    1q21.1 deletion

 
1q21.1 duplication                    2p15p16.1 deletion
 
2q33.1 deletion                    2q37 deletion
 
3q29 deletion                    7q11.23 duplication
 
12q14 deletion                    15q24deletion
 
15q13.3 deletion                    16p11.2 deletion
 
   16p11.2 duplication                    17q12 duplication
 
17q12 deletion                    22q11.2 duplication
 
22q11.2 distal deletion                    22q11.2 deletion

 

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

http://omim.org/entry/607872

https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome

 


1q21.1 deletion

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://omim.org/entry/612474

http://www.nejm.org/doi/full/10.1056/NEJMoa0805384

http://www.simonsvipconnect.org

https://ghr.nlm.nih.gov/condition/1q211-microdeletion

 


1q21.1 duplication

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

 


2p15p16.1 deletion

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://www.rarechromo.org/information/Chromosome%20%202/2p15p16.1%20microdeletion%20syndrome%20FTNW.pdf

 

http://omim.org/entry/612513?search=2p15&highlight=2p15

 


2q33.1 deletion

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.

http://www.rarechromo.org/information/Chromosome%20%202/2q33.1%20deletions%20and%20other%20deletions%20between%202q31%20and%202q33%20FTNW.pdf

 


2q37 deletion

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

 


3q29 deletion

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/

http://www.rarechromo.org/information/Chromosome%20%203/3q29%20deletions%20and%20microdeletions%20FTNW.pdf

http://omim.org/entry/609425

https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome

 


7q11.23 duplication

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/

http://omim.org/entry/609757

https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome

 


12q14 deletion

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/

 


15q24 deletion

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

 


15q13.3 deletion

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/

http://omim.org/entry/612001

https://ghr.nlm.nih.gov/condition/15q133-microdeletion

 


16p11.2 deletion

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

 


16p11.2 duplication

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

 


17q12 duplication

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://omim.org/entry/614526

http://www.rarechromo.org/information/Chromosome%2017/17q12%20microduplications%20FTNP.pdf

 


17q12 deletion

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://omim.org/entry/614527

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978962/

https://www.ncbi.nlm.nih.gov/books/NBK401562/

 


22q11.2 duplication

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

 


22q11.2 distal deletion

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.

http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20distal%20deletion%20syndrome%20FTNP.pdf

http://www.omim.org/entry/611867?search=22q11.2%20Deletion%20distal&highlight=distal%2022q112%20deletion

 


22q11.2 deletion

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.rarechromo.org/information/Chromosome%2022/22q11.2%20deletion%20syndrome%20(Velo-Cardio-Facial%20Syndrome)%20FTNP.pdf

http://www.ncbi.nlm.nih.gov/books/NBK1523/

http://omim.org/entry/192430

https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome