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Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q


Schinzel, Albert; Tönz, O (1979). Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q. Human Genetics, 53(1):121-124.

Abstract

An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3–5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5q15 and trisomy of 7q32→qter (46,XY, der (5), t(5;7)(p15;q32)mat).

Abstract

An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3–5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5q15 and trisomy of 7q32→qter (46,XY, der (5), t(5;7)(p15;q32)mat).

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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:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Hydrocephalus, Congenital Heart, Hydronephrosis, Congenital Heart Defect, Neurologic Dysfunction
Language:English
Date:1 January 1979
Deposited On:25 Oct 2023 09:15
Last Modified:30 Mar 2024 04:48
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00289464
PubMed ID:535897
Other Identification Number:Corpus ID: 23780179