Application of array-CGH for the detection of genomic rearrangements responsible for syndromic mental retardation of unknown cause

ABSTRACT: Here we describe an interstitial pure duplication of 19p13.3 that was initially considered as a de novo alteration, in a patient with intellectual disability studied by array-CGH. The finding of the same chromosomal alteration in a first-degree cousin of this patient led us to investigate the presence of insertional translocations. An intrachromosomal insertional translocation was found in at least three generations. Three intellectually disabled patients with the same duplication and multiples abortions among translocation carrier family members were found. A review of other published cases has allowed us to find three other cases with a similar pure duplication and some clinical findings present in all patients as intrauterine growth retardation, microcephaly, motor and speech delay, mod

ORGANISM(S): Homo sapiens

SUBMITTER: Francisco Martinez 

PROVIDER: E-GEOD-57899 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress