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1.

Chromosome 17q12 duplication syndrome

In individuals with clinical manifestations the 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to severe disability and other variable clinical manifestations. Speech delay is common, and most affected individuals have some degree of gross motor delay. Seizures are present in 75%. Up to one third have eye or vision problems; cardiac and renal anomalies occur in rare cases. Other neurodevelopmental and psychiatric conditions reported in a subset of affected individuals are autism spectrum disorder, schizophrenia, and behavioral abnormalities (aggression and self-injury). The 17q12 recurrent duplication likely has reduced penetrance and variable expressivity since it is inherited in most instances from a parent who is often minimally affected or phenotypically normal. [from GTR]

MedGen UID:
482767
Concept ID:
C3281137
Disease or Syndrome
2.

Chromosome 16p12.1 deletion syndrome, 520-kb

16p12.2 microdeletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; individuals with schizophrenia) makes it difficult to accurately associate specific phenotypes to the 16p12.2 microdeletion. Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranges from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/or behavioral problems. Other findings can include: hearing loss, dental abnormalities, renal and genital anomalies (the latter in males), and cleft palate ± cleft lip. [from GTR]

MedGen UID:
460626
Concept ID:
C3149276
Disease or Syndrome
3.

1q21.1 recurrent microdeletion

1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild.Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss.Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention deficit hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia.Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family. [from GTR]

MedGen UID:
393913
Concept ID:
C2675897
Congenital Abnormality
4.

15q13.3 microdeletion syndrome

Individuals with the 15q13.3 microdeletion are at increased risk for a wide range of clinical manifestations including intellectual disability, seizures, autism spectrum disorders, and schizophrenia; however, the microdeletion itself does not appear to lead to a clinically recognizable syndrome and a subset of persons with the deletion have no obvious clinical findings. Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. Intellectual disability, observed in about half of the individuals with this recurrent deletion, is usually mild but can be moderate to severe. [from GTR]

MedGen UID:
393784
Concept ID:
C2677613
Congenital Abnormality
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