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Article

Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature.

Cytogenetic and genome research - 1 Jan 2013

Castiglione A, Guaran V, Astolfi L, Orioli E, Zeri G, Gemmati D, Bovo R, Montaldi A, Alghisi A, Martini A

Abstract excerpt

The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The...

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Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23942271
DOI: 10.1159/000353846

Genes

CHD7

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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