Unique mosaic X/Y translocation/insertion in infant 45,X male.
We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments.
Chernykh
V B
VB
Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Russian Federation, Moscow, Russia. chernykh@med-gen.ru
Vyatkina
S V
SV
Antonenko
V G
VG
Shilova
N V
NV
Zolotukhina
T V
TV
Kurilo
L F
LF
Chukhrova
A L
AL
Polyakov
A V
AV
D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000235:genetics; D007057:Ichthyosis / Q000150:complications / Q000235:genetics; D007223:Infant; D008297:Male; D009030:Mosaicism; D014178:Translocation, Genetic