Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features - PubMed (original) (raw)

. 2013 Oct 15;529(1):65-8.

doi: 10.1016/j.gene.2013.06.056. Epub 2013 Jul 27.

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Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features

Arelí López-Uriarte et al. Gene. 2013.

Abstract

We report here a child with a ring chromosome 2 [r(2)] associated with failure to thrive, microcephaly and dysmorphic features. The chromosomal aberration was defined by chromosome microarray analysis, revealing two small deletions of 2p25.3 (139 kb) and 2q37.3 (147 kb). We show the clinical phenotype of the patient, using a conventional approach and the molecular cytogenetics of a male with a history of prenatal intrauterine growth restriction (IUGR), failure to thrive, microcephaly and dysmorphic facial features. The phenotype is very similar to that reported in other clinical cases with ring chromosome 2.

Keywords: CMA; CNV; Chromosome microarray analysis; DNA; Dysmorphic facial features; FISH; Failure to thrive; G-bands after trypsin and Giemsa; GTG; ISCN; IUGR; International System for Human Cytogenetic Nomenclature; Microcephaly; Molecular cytogenetics; Ring 2 chromosome; SD; chromosomal microarray analysis; copy number variation; deoxyribonucleic acid; fluorescence in situ hybridization; intrauterine growth restriction; long arm of a chromosome; p; q; short arm of a chromosome; standard deviation.

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