22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

Anikó Ujfalusi 1, Orsolya Nagy 1 2, Beáta Bessenyei 1, Györgyi Lente 3, Irén Kántor 4, Ádám J Borbély 5, Katalin Szakszon 6

Affiliations

PMID: 32903739
PMCID: PMC7445545 (available on 2021-07-01)
DOI: 10.1159/000507103

Abstract

Distal duplication 22q (22q13.3qter) is a rare condition with only 24 cases described so far. Parental balanced reciprocal translocations and pericentric inversions involving chromosome 22 predispose to the conception of an unbalanced offspring and are more frequently reported than de novo events. The clinical phenotype of patients is highly variable and does not necessarily correlate with the extent of the duplicated segment. Short stature, microcephaly, hypertelorism, cleft lip or palate, low-set ears, and intellectual disability seem to be the most consistent features. Familial reoccurrence is extremely rarely reported. Here, we report 2 siblings with a 22q13.3qter duplication detected by array CGH; their mother is a carrier of a pericentric inversion in chromosome 22. Their relatively mild phenotype and identical chromosomal breakpoints as well as duplication size are unique. This is the first case described so far.

Keywords: 22q13; 22qter; Array CGH; Distal trisomy 22q; Pericentric inversion.