A complex chromosome rearrangement resulting in trisomy 15q22→qter
Authors:
- Patricia N Howard-PeeblesPHPatricia N Howard-Peebles
- Paula R ScarbroughPSPaula R Scarbrough
- Wayne H FinleyWFWayne H Finley
- Sara C FinleySFSara C Finley
- 1 June 1982
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (3) , 224-227
Abstract
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.Keywords
This publication has 14 references indexed in Scilit:
- Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21)Human Genetics, 1981
- Complex chromosome rearrangements:Report of a new case and literature reviewClinical Genetics, 1980
- Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.Journal of Medical Genetics, 1980
- A duplication-deficiency X chromosome in a girl with severe mental retardationHuman Genetics, 1980
- A gene controlling H-Y antigen on the X chromosomeHuman Genetics, 1980
- Structural aberrations of the X chromosome in manHuman Genetics, 1978
- Replication pattern of the X chromosomes in three X/autosomal translocationsCytogenetic and Genome Research, 1977
- Presumptive evidence of two active X chromosomes in somatic cells of a human femaleNature, 1977
- Sur quatre nouveaux cas de translocation du chromosome X chez l'hommeHuman Genetics, 1975
- Inherited partial duplication of chromosome No. 15Journal of Medical Genetics, 1974