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Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

著者 Posey JE , Mohrbacher N , Smith JL , Patel A , Potocki L , Breman AM
Am J Med Genet A.2015 Nov 14 ; ():.
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Triploid mosaicism is a rare aneuploidy syndrome characterized by growth retardation, developmental delay, 3-4 syndactyly, microphthalmia, coloboma, cleft lip and/or palate, genitourinary anomalies, and facial or body asymmetry. In the present report, we describe a 3-month-old female presenting with failure to thrive, growth retardation, and developmental delay. A chromosomal microarray demonstrated monosomy X, but her atypical phenotype prompted further evaluation with a chromosome analysis, which demonstrated 45,X/68,XX mixoploidy. To our knowledge, this is the first report of a patient with this chromosome complement. Mosaicism in chromosomal aneuploidies is likely under-recognized and may obscure the clinical diagnosis. At a time when comparative genomic hybridization and genome sequencing are increasingly used as diagnostic tools, this report highlights the clinical utility of chromosome analysis when a molecular diagnosis is not consistent with the observed phenotype. © 2015 Wiley Periodicals, Inc.
PMID: 26566716 [PubMed - as supplied by publisher]
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