The clinical phenotype of<unk>  is variable. Clinical features can include mild/moderate intellectual disability with mildly dysmorphic facial features (long and narrow face, short philtrum and a high nasal bridge). Of the 6 reported patients, additional features including autism, ataxia, chest-wall deformity and long, tapering fingers were found in at least two patients. A review of 14 children with interstitial deletions of<unk> , found 11 who had the common recurrent 1.6Mb deletion and displayed mental retardation and microcephaly. The variability of phenotype is underscored by the report on a 6 and 9/12 year-old male patient with a de novo chromosome<unk><unk>  identified by BAC array comparative genomic hybridization assay (aCGH), with accompanying normal 46,XY high-resolution chromosome analysis. The patient has language-based learning disabilities and behavioral features consistent with diagnoses of autism and attention deficit hyperactivity disorder (ADHD) of the inattentive type. He also displays some other features previously associated with chromosome<unk><unk>  such as an elongated face, long fingers, and joint laxity. Most notably the patient, per formal IQ testing, was not found to have frank intellectual disability as has been previously reported among patients with chromosome<unk>  terminal deletion, but rather the patient has demonstrated an average full-scale IQ result. This report further expands the phenotypic spectrum to include the possibility of normal intelligence as corroborated by formal, longitudinal psycho-educational testing. The presence of two homologous low copy repeats either side of the deletion break-point suggests that non-allelic homologous recombination is the likely mechanism underlying this syndrome.
3q29 microdeletion syndrome
17q12 microdeletion syndrome
2q37 deletion syndrome
13q deletion syndrome
1p36 deletion syndrome
22q13 deletion syndrome
9q34 deletion syndrome
22q11.2 distal deletion syndrome