Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).
We report on a 20-year-old man and a 16-year-old woman with a chromosomal imbalance derived from a balanced translocation, t(Y;1)(q12;p36.3) of the father. The man had a partial trisomy for 1p36.3-pter [46,X,der(Y)t(Y:1)(q12;p36.3)] and mild craniosynostosis of metopic and sagittal sutures as well as a borderline mental impairment, while the woman with a deletion for 1p36.3-pter [46,XX,der(1)t(Y;1)(q12;p36.3)] showed dysmorphic face with large anterior fontanel and severe developmental delay. Fluorescence in situ hybridization (FISH) showed that his trisomy spanned the 5.3-Mb region from 1p telomere harboring the critical region for craniosynostosis. To our knowledge, the man is the first case of a pure type of simple 1p36.3 trisomy as the effect of heterochromatic Yq12-qter deletion likely does not affect phenotype.
Hiraki
Yoko
Y
Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan. hy-772v@enjoy.ne.jp
Fujita
Hiroko
H
Yamamori
Shunji
S
Ohashi
Hirofumi
H
Eguchi
Maki
M
Harada
Naoki
N
Mizuguchi
Takeshi
T
Matsumoto
Naomichi
N
D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D041322:Chromosomes, Human, Y; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D020161:Physical Chromosome Mapping; D014178:Translocation, Genetic; D014314:Trisomy