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Article

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation.

Clinical dysmorphology - 1 Jul 2004

Knauer-Fischer Sabine A, Richter-Unruh Annette, Albrecht Beate, Gillessen-Kaesbach Gabriele, Hauffa Berthold P

Abstract excerpt

We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice. In one sample an additional marker chromosome was found in one of 53 analysed metaphases, which could not be further...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15194957
DOI: 10.1097/01.mcd.0000134478.87995.4b

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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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