Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.
We describe a female neonate with spondylocostal dysostosis and a translocation resulting in monosomy for the region 6q25-->qter and trisomy for the region 15q11.1-->pter. The finding of a Mendelian disorder with a chromosomal abnormality may help in the localization of the gene(s) involved in this disease.
Crow
Y J
YJ
Department of Medical Genetics, Royal Hospital for Sick Children, Yorkhill Hospitals NHS Trust, Glasgow, UK. ycrow@hgmp.nrc.ac.uk
Tolmie
J L
JL
Rippard
K
K
Nairn
L
L
Wilkinson
A G
AG
Turner
T
T
D002884:Chromosomes, Human, Pair 15; D002896:Chromosomes, Human, Pair 6; D004413:Dysostoses / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D014178:Translocation, Genetic