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Article

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32).

American journal of medical genetics. Part A - 1 Sept 2010

Mademont-Soler Irene, Morales Carme, Armengol Lluís, Soler Anna, Sánchez Aurora

Abstract excerpt

We report on a girl with mild dysmorphic facial features, Dandy-Walker malformation (DWM), iris coloboma, profound hearing loss, and hyperlaxity of skin and joints, whose karyotype is 46,XX,t(6;13)(q23;q32)dn and who has a cryptic imbalance at the 13q32 translocation breakpoint assessed by array-CGH. Our patient has many clinical manifestations in common with those of the previously reported cases of 13q32...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 13

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

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Share to Comparative Genomic Hybridization

Share to DNA-Binding Proteins

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Source

Identifiers

PMID: 20683983
DOI: 10.1002/ajmg.a.33550

Genes

ZIC2
ZIC5

Provenance

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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