A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

ABSTRACT: Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for common clinical features. Using a genotype-first approach, we characterized microdeletions at 20q13.33 in six patients referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. These deletions are relatively rare, with only 11 cases reported. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and

ORGANISM(S): Homo sapiens

SUBMITTER: Blake Ballif 

PROVIDER: E-GEOD-21536 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress