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Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.

作者信息

Wang J, Reddy K S, Wang E, Halderman L, Morgan B L, Lachman R S, Lin H J, Cornford M E

机构信息

Department of Pathology, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance, California 90502, USA.

出版信息

Am J Med Genet. 1999 Feb 12;82(4):312-7. doi: 10.1002/(sici)1096-8628(19990212)82:4<312::aid-ajmg7>3.0.co;2-9.

DOI:10.1002/(sici)1096-8628(19990212)82:4<312::aid-ajmg7>3.0.co;2-9
PMID:10051164
Abstract

A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.

摘要

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