A complex chromosome rearrangement resulting in trisomy 15q22→qter

A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 1982-06, Vol.19 (3), p.224-227
Main Authors: Howard-Peebles, Patricia N, Scarbrough, Paula R, Sharpe, Joe, Finley, Wayne H, Finley, Sara C
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Case Reports
Chromosomes, Human, 13-15
Chromosomes, Human, 4-5
Female
Humans
Infant, Newborn
Karyotyping
Male
Trisomy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation in growth and development, microcephaly, asymmetrical facies, prominent occiput, antimongoloid slant of the palpebral fissures, micrognathia, prominent nose, and congenital heart disease.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.19.3.224