Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations. J Pediatr 2005 Mar;146(3):382-7
Date
03/10/2005Pubmed ID
15756225DOI
10.1016/j.jpeds.2004.10.038Scopus ID
2-s2.0-14844316720 (requires institutional sign-in at Scopus site) 16 CitationsAbstract
OBJECTIVES: Cardiovascular malformations (CVMs) are reported to be common (approximately 75%) in patients with deletion 22q11.2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM.
STUDY DESIGN: After the diagnosis of del22q11 in two unrelated probands with CVM, we sequentially evaluated family members with clinical evaluation and cytogenetic analysis.
RESULTS: Del22q11 was identified in 13 individuals; all exhibited characteristic dysmorphic facial features, but a CVM was present in only 6 of 13 (46%) individuals.
CONCLUSIONS: We speculate that in the absence of CVM, diagnosis of del22q11 is hampered by a failure to recognize extracardiac features of the del22q11 syndrome spectrum. The data highlight the need for primary care physicians and specialists to familiarize themselves with the extracardiac stigmata of del22q11 to ensure timely diagnosis in all family members.
Author List
Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DWMESH terms used to index this publication - Major topics in bold
AdultCardiovascular Abnormalities
Chromosome Deletion
Chromosomes, Human, Pair 22
Craniofacial Abnormalities
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Pedigree
Phenotype
Speech Disorders
Syndrome
