Header

UZH-Logo

Maintenance Infos

A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies


Schinzel, Albert; Gundelfinger, Ronnie; Dutly, Fabrizio; Baumer Wolz, Alessandra; Binkert, Franz (1998). A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies. American Journal of Medical Genetics, 77(4):302-305.

Abstract

An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short up-slanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronchi, clino- and camptodactyly of little fingers, and sacral vertebral fusion. Determination of microsatellites mapping to the deleted segment demonstrated that the deletion had occurred in the paternal germ line. This is the seventh patient with a deletion of 3p14, and comparison with the six previously reported cases does not yet allow definition of a specific pattern of minor and major anomalies.

Abstract

An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short up-slanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronchi, clino- and camptodactyly of little fingers, and sacral vertebral fusion. Determination of microsatellites mapping to the deleted segment demonstrated that the deletion had occurred in the paternal germ line. This is the seventh patient with a deletion of 3p14, and comparison with the six previously reported cases does not yet allow definition of a specific pattern of minor and major anomalies.

Statistics

Citations

Dimensions.ai Metrics
4 citations in Web of Science®
4 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 18 Apr 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), chromosomal deletion, 3p14
Language:English
Date:26 May 1998
Deposited On:18 Apr 2023 14:34
Last Modified:29 Apr 2024 01:37
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/(SICI)1096-8628(19980526)77:4<302::AID-AJMG10>3.0.CO;2-M
PubMed ID:9600740