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Article

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.

Gene - 1 Aug 2012

Palka-Bayard-de-Volo Chiara, De Marco Stefania, Chiavaroli Valentina, Alfonsi Melissa, Calabrese Giuseppe, Chiarelli Francesco, Mohn Angelika

Abstract excerpt

We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11) de novo karyotype who presented an intricate phenotype characterized by mental retardation and facial dysmorphisms in combination with short stature. The structure of the derivative X chromosome was studied using BAC array-CGH which disclosed the Xp22 breakpoint between the STS and the VCX3A gene and the presence of...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Comparative Genomic Hybridization

Share to Dwarfism

Share to Karyotyping

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Source

Identifiers

PMID: 22583828
DOI: 10.1016/j.gene.2012.05.009

Genes

STS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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