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Article

De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations.

American journal of medical genetics - 22 Dec 1999

Han J Y, Kim K H, Lee H D, Moon S Y, Shaffer L G

Abstract excerpt

Duplication of distal 15q results in a recognizable clinical phenotype. We report here on a 25-day-old boy with a de novo interstitial duplication of chromosome region 15q15-q24. The manifestations in this patient are milder than those of previously described patients and include minor facial anomalies, velopharyngeal insufficiency, branchial cleft cyst, and hydronephrosis. Fluorescence in situ hybridization...

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Share to Abnormalities, Multiple
Share to Chromosome Banding
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 10594877
DOI: 10.1002/(sici)1096-8628(19991222)87:5<395::aid-ajmg5>3.0.co;2-h

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SNRPN

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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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