Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities

作者：Tan Tiong Yang^*; Collins Amanda; James Paul A; McGillivray George; Stark Zornitza; Gordon Christopher T; Leventer Richard J; Pope Kate; Forbes Robin; Crolla John A; Ganesamoorthy Devika; Burgess Trent; Bruno Damien L; Slater Howard R; Farlie Peter G; Amor David J

来源：American Journal of Medical Genetics, Part A, 2011, 155A(7): 1623-1633.

DOI：10.1002/ajmg.a.34051

• congenital heart disease
• Goldenhar syndrome
• microarray
• microdeletion
• microduplication
• Mullerian defects
• oculo-auriculo-vertebral spectrum
• polymicrogyria
• 22q11.2

The availability of microarray technology has led to the recent recognition of copynumber abnormalities of distal chromosome 22q11.2 that are distinct from the better-characterized deletions and duplications of the proximal region. This report describes five unrelated individuals with copy number abnormalities affecting distal chromosome 22q11.2. We report on novel phenotypic features including diaphragmatic hernia and uterine didelphys associated with the distal microdeletion syndrome; and frontomedial polymicrogyria and callosal agenesis associated with the distal microduplication syndrome. We describe the third distal chromosome 22q11.2 microdeletion patient with Goldenhar syndrome. Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter- and intra-familial phenotypic variability, and challenge our ability to draw meaningful genotype-phenotype correlations.

• 出版日期2011-7