Ontology highlight
ABSTRACT:
SUBMITTER: Alkalay AA
PROVIDER: S-EPMC4081864 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Alkalay Avishai A AA Guo Tingwei T Montagna Cristina C Digilio M Cristina MC Dallapiccola Bruno B Marino Bruno B Morrow Bernice B
American journal of medical genetics. Part A 20110218 3
Cytogenetic studies of a male child carrying the 22q11.2 deletion common in patients with velo-cardio-facial/DiGeorge syndrome showed an unexpected rearrangement of the 22q11.2 region in his normal appearing mother. The mother carried a 3 Mb deletion on one copy and a reciprocal, similar sized duplication on the other copy of chromosome 22q11.2 as shown by fluorescence in situ hybridization and array comparative genome hybridization analyses. The most parsimonious mechanism for the rearrangement ...[more]