11q trisomy detected by fluorescence in situ hybridization.
A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3:37 cells), and the marker chromosome was identified as t(Y;11)(q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy.
Takano
T
T
Department of Hygiene & Public Health, Teikyo University School of Medicine, Tokyo, Japan.
Yamanouchi
Y
Y
Kawashima
S
S
Date
M
M
Hashira
S
S
Kida
M
M
Abe
T
T
Nakahori
Y
Y
Nakagome
Y
Y
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D009030:Mosaicism / Q000235:genetics; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic; D014314:Trisomy; D014998:Y Chromosome