22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).
Genetic counseling (Geneva, Switzerland), vol.26, no.1, pp.67-75, 2015 (SCI-Expanded)
- Publication Type: Article / Article
- Volume: 26 Issue: 1
- Publication Date: 2015
- Journal Name: Genetic counseling (Geneva, Switzerland)
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
- Page Numbers: pp.67-75
- Keywords: DiGeorge syndrome, Tertiary monosomy 22q, Tertiary monosomy 18p, Fluorescence in situ hybridization, IN-SITU HYBRIDIZATION, DIGEORGE-SYNDROME, MEIOTIC SEGREGATION, DELETION, CHROMOSOME-22, MONOSOMY, CARRIERS
- Akdeniz University Affiliated: Yes
Abstract
22q11.2 syndrome due to maternal translocation t(18;22) (p11.2;q11.2): 22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is most often associated with a de novo 3 Mb hemizygous 22q11.2 deletion. The recognition of similarities and phenotypic overlap between DiGeorge syndrome and other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of this syndrome. Indeed, the extent of this phenotypic variability can often make it difficult to accurately diagnose DiGeorge syndrome.