TY - JOUR
T1 - Double mosaic aneuploidy
T2 - 45,X/47,XY,+8 in a male infant
AU - Schofield, B.
AU - Babu, A.
AU - Punales-Morejon, D.
AU - Popescu, S.
AU - Leiter, E.
AU - Franklin, B.
AU - Penchaszadeh, V. B.
PY - 1992
Y1 - 1992
N2 - We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.
AB - We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.
KW - 45,X mosaicism
KW - 45,X/47,XY,+8
KW - double aneuploidy
KW - trisomy 8 mosaicism
KW - utriculum persistence of
KW - vesicoureteral reflux
UR - http://www.scopus.com/inward/record.url?scp=0026656408&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320440103
DO - 10.1002/ajmg.1320440103
M3 - Article
C2 - 1519655
AN - SCOPUS:0026656408
SN - 0148-7299
VL - 44
SP - 7
EP - 10
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -