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Article

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Journal of medical genetics - 1 Jul 1992

Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J

Abstract excerpt

A 2 year old girl presented with developmental delay and subtle dysmorphic features suggestive of Wolf-Hirschhorn syndrome (WHS). High resolution chromosome analysis was normal in the child and both parents. Molecular analysis indicated that the child had not inherited a maternal allele of probes from 4p16, confirming the clinical diagnosis. Prenatal diagnosis in the next pregnancy showed that again the fetus had...

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Identifiers

PMID: 1640422
PMCID: PMC1016017

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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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A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.PMID 1640422Read ↗

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Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.Semantic proximity Read ↗

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.Semantic proximity Read ↗

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