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Article

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Journal of medical genetics - 1 Jul 1998

Savarirayan R, Bankier A

Abstract excerpt

Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1. A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the SOX9 gene. We report a severely affected infant with the...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9678706
DOI: 10.1136/jmg.35.7.597
PMCID: PMC1051372

Genes

SOX9
SRY

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.

Related research

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Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.PMID 9678706Read ↗

Acampomelic campomelic syndrome.Semantic proximity Read ↗

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Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.Semantic proximity Read ↗

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