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Article

Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Orphanet journal of rare diseases - 12 Feb 2007

Sills Eric Scott, Burns M J, Parker Laurinda D, Carroll Lisa P, Kephart Lisa L, Dyer C S, Papenhausen Peter R, Davis Jessica G

Abstract excerpt

OBJECTIVE: To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q. MATERIALS AND METHODS: A 21-year old female was brought for gynecologic evaluation of menorrhagia. High-resolution metaphase karyotype and subtelomere fluorescent in-situ hybridization (FISH) analysis were used for genotype determination. Pelvic anatomy was characterized via CT and...

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Identifiers

PMID: 17295911
DOI: 10.1186/1750-1172-2-9
PMCID: PMC1803779

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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