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Article

Monosomy 1p36--a recently delineated, clinically recognizable syndrome.

Clinical dysmorphology - 1 Jan 2002

Zenker M, Rittinger O, Grosse K P, Speicher M R, Kraus J, Rauch A, Trautmann U

Abstract excerpt

Monosomy 1p36 is a recently delineated contiguous gene syndrome, which is now considered to be one of the most common subtelomeric microdeletion syndromes. We report four unrelated patients with subtle deletions within 1p36 confirmed by high resolution karyotyping and FISH. All exhibited severe psychomotor retardation. Microcephaly, seizures, and visual impairment occurred in three subjects. Results of a first...

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Identifiers

PMID: 11822705
DOI: 10.1097/00019605-200201000-00009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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