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Article

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

American journal of medical genetics - 8 Aug 1997

Stockton D W, Ross H L, Bacino C A, Altman C A, Shaffer L G, Lupski J R

Abstract excerpt

We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to...

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Source

Identifiers

PMID: 9217220
DOI: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>3.0.co;2-a

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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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