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Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35)


Schinzel, Albert; Hanson, J W; Pagon, R A; Hoehn, H; Smith, D W (1978). Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35). Annales de génétique, 21(3):168-171.

Abstract

We describe a patient with partial trisomy 3p resulting from maternal translocation, t(3:4)(p23;q35). The male newborn who died at the age of 22 hours presented with distinct facial features including a square-shaped face with prominent forehead and depressed temporal regions, prominent cheeks, short broad nose, left cleft lip and cleft palate, malformed ears, and a receding mandible. Further findings were flexion deformities of the fingers with finger-like thumbs and mild cutaneous syndactyly 2/3 and 4/5, hypoplastic penis and scrotum with no palpable testes. He probably had a congenital heart defect and situs inversus abdominalis. Many of these features have been reported in other patients with distal trisomy 3p.

Abstract

We describe a patient with partial trisomy 3p resulting from maternal translocation, t(3:4)(p23;q35). The male newborn who died at the age of 22 hours presented with distinct facial features including a square-shaped face with prominent forehead and depressed temporal regions, prominent cheeks, short broad nose, left cleft lip and cleft palate, malformed ears, and a receding mandible. Further findings were flexion deformities of the fingers with finger-like thumbs and mild cutaneous syndactyly 2/3 and 4/5, hypoplastic penis and scrotum with no palpable testes. He probably had a congenital heart defect and situs inversus abdominalis. Many of these features have been reported in other patients with distal trisomy 3p.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical)
Language:English
Date:September 1978
Deposited On:28 Mar 2024 10:46
Last Modified:30 Apr 2024 01:53
Publisher:Elsevier
ISSN:0003-3995
OA Status:Closed
Related URLs:https://api.semanticscholar.org/CorpusID:34726124 (Library Catalogue)
PubMed ID:315193
Other Identification Number:Corpus ID: 34726124