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Article

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

American journal of medical genetics. Part A - 1 Mar 2016

Posey Jennifer E, Mohrbacher Nikki, Smith Janice L, Patel Ankita, Potocki Lorraine, Breman Amy M

Abstract excerpt

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,...

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Share to Abnormalities, Multiple
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

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Identifiers

PMID: 26566716
DOI: 10.1002/ajmg.a.37469
PMCID: PMC4760878

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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