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Article

A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.

Clinical genetics - 1 Jan 1992

Park J P, Moeschler J B, Berg S Z, Bauer R M, Wurster-Hill D H

Abstract excerpt

We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases i...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 17
Clubfoot
Face
Female
Hand Deformities, Congenital
Humans
Hypertelorism
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Phenotype

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Identifiers

PMID: 1633649
DOI: 10.1111/j.1399-0004.1992.tb03631.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1633649-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.PMID 1633649Read ↗

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

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).Semantic proximity Read ↗

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Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17pSemantic proximity Read ↗

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A new spontaneous deletion on chromosome 17 including brachyury.Semantic proximity Read ↗

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