Ontology highlight
ABSTRACT:
SUBMITTER: Halder A
PROVIDER: S-EPMC2527005 | biostudies-literature | 2008 Aug
REPOSITORIES: biostudies-literature
Molecular cytogenetics 20080810
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 2 ...[more]