Header

UZH-Logo

Maintenance Infos

Trisomy 20pter=q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother


Schinzel, Albert (1980). Trisomy 20pter=q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother. Human Genetics, 53(2):169-172.

Abstract

A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inhherited balanced t(13;20)(p11;q11) translocation.

Abstract

A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inhherited balanced t(13;20)(p11;q11) translocation.

Statistics

Citations

Dimensions.ai Metrics

Altmetrics

Downloads

0 downloads since deposited on 20 Oct 2023
0 downloads since 12 months

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
Language:English
Date:February 1980
Deposited On:20 Oct 2023 09:09
Last Modified:30 Mar 2024 04:46
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00273490
PubMed ID:7358383
Other Identification Number:Corpus ID: 22074604