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Article

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

American journal of medical genetics - 29 Jan 1999

Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A

Abstract excerpt

We report on a 4 year-old girl with a 1p36.3-pter deletion. Clinical findings included minor anomalies of face and distal limbs, patent ductus arteriosus, the Ebstein heart anomaly, and brain atrophy with seizures. Conventional GTG-banded chromosome analysis revealed a normal (46,XX) result. Subs...

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Source

Identifiers

PMID: 10215549
DOI: 10.1002/(sici)1096-8628(19990129)82:3<249::aid-ajmg10>3.0.co;2-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10215549-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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