Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
Copyright policy )Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
AbstractInterstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. TheTBX1gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass theTBX1gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g.,CRKL) in the molecular pathogenesis of the 22q11.2 deletion syndrome. © 2012 Wiley Periodicals, Inc.
- Erasmus University Rotterdam Netherlands
- Erasmus University Medical Center Netherlands
Adult, Male, Adolescent, Chromosomes, Human, Pair 22, Infant, Newborn, EMC MGC-02-52-01-A, Craniofacial Abnormalities, Phenotype, Pregnancy, Child, Preschool, DiGeorge Syndrome, Humans, Female, Chromosome Deletion, T-Box Domain Proteins, EMC MGC-02-96-01, EMC COEUR-09
Adult, Male, Adolescent, Chromosomes, Human, Pair 22, Infant, Newborn, EMC MGC-02-52-01-A, Craniofacial Abnormalities, Phenotype, Pregnancy, Child, Preschool, DiGeorge Syndrome, Humans, Female, Chromosome Deletion, T-Box Domain Proteins, EMC MGC-02-96-01, EMC COEUR-09
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