De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?

• Published in: American journal of medical genetics. Part A 2014-12, Vol.164A (12), p.3194-3202
• Main Authors: Greally, Marie T., Robinson, Eve, Allen, Nicholas M., O'Donovan, Donough, Crolla, John A.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; array comparative genomic hybridization (array CGH); Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 2 - genetics; Comparative Genomic Hybridization; deletion 2q14.1-q22.1; Developmental Disabilities - genetics; Developmental Disabilities - pathology; dysmorphic features; Echocardiography; GLI2; Humans; Karyotype; Male; Phenotype
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36786

In this report we describe a male patient with a rare de novo interstitial deletion of chromosome 2q14.1–q22.1. His karyotype was reported as 46,XY,del(2)(q13q21) but subsequent array comparative genomic hybridization (array CGH) analysis redefined the deletion breakpoints as 2q14.1 and 2q22.1. Eight patients have been reported with deletions either within or spanning the region 2q13 or 2q14 to 2q22.1. In five patients the diagnosis was made by karyotype analysis alone and in three reported patients and the proband array CGH analysis was also performed. When the proband was compared with the eight previously reported patients it was apparent that they shared many clinical findings suggesting that patients with a de novo interstitial deletion involving 2q13 or 2q14 to 2q21 or 2q22 may have a recognizable phenotype. There are 14 known disease‐associated genes in the deleted region of 2q14.1–q22.1 and their possible phenotypic effects on the proband and the eight previously reported patients are discussed. © 2014 Wiley Periodicals, Inc.