Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: A case report. (30th October 2014)

• Record Type: Journal Article
• Authors: Molck, Miriam Coelho; Vieira, Társis Paiva; Simioni, Milena; Sgardioli, Ilária Cristina; Santos, Ana Paula dos; Xavier, Ana Carolina; Gil‐da‐Silva‐Lopes, Vera Lúcia
• Is Part Of: American journal of medical genetics. Volume 167:Number 1(2015:Jan.)
• Page Start: 215
• Page End: 220
• Publication Date: 2014-10-30
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36809
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36809-sec-0001" sec-type="section"> <p>The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non‐allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5‐Mb de novo deletion at proximal 22q11.21 region (between LCRs A‐D), combined with a 1.3‐Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F‐H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype‐phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>