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Article

Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.

Clinical genetics - 1 Nov 1993

Khalifa M M, MacLeod P M, Duncan A M

Abstract excerpt

A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.

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Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

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

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Source

Identifiers

PMID: 7906212
DOI: 10.1111/j.1399-0004.1993.tb03893.x

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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