TY - JOUR
T1 - Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts
T2 - Is It Causally Related to Penoscrotal Hypospadias
AU - Giltay, Jacques C.
AU - Klijn, Aart J.
AU - de Jong, Tom P V M
AU - Kats, Peter
AU - van Breugel, Marjolein
AU - Lens, Susan
AU - Vromans, Martijn
AU - Van Der Veken, Lars T.
AU - Hochstenbach, Ron
PY - 2016/7/1
Y1 - 2016/7/1
N2 - Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with severe penoscrotal hypospadias and a coloboma of the left eye but with normal growth, normal psychomotor development, and without dysmorphisms. We considered a local, mosaic sex chromosomal aneuploidy as a possible cause of his genital anomaly and performed karyotyping in cultured fibroblasts from the genital skin, obtained during surgical correction. Tetraploid/diploid (92,XXYY/46,XY) mosaicism was found in 43/57 and 6/26 metaphases in 2 separate cultures, respectively. Buccal smear cells, blood lymphocytes, and ells from urine sediment all showed diploidy. We investigated whether this chromosomal abnormality could be found in other patients with severe hypospadias and karyotyped genital fibroblasts of 6 additional patients but found only low frequencies (
AB - Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with severe penoscrotal hypospadias and a coloboma of the left eye but with normal growth, normal psychomotor development, and without dysmorphisms. We considered a local, mosaic sex chromosomal aneuploidy as a possible cause of his genital anomaly and performed karyotyping in cultured fibroblasts from the genital skin, obtained during surgical correction. Tetraploid/diploid (92,XXYY/46,XY) mosaicism was found in 43/57 and 6/26 metaphases in 2 separate cultures, respectively. Buccal smear cells, blood lymphocytes, and ells from urine sediment all showed diploidy. We investigated whether this chromosomal abnormality could be found in other patients with severe hypospadias and karyotyped genital fibroblasts of 6 additional patients but found only low frequencies (
KW - Cultured fibroblasts
KW - Penoscrotal hypospadias
KW - Tetraploid/diploid mosaicism
UR - http://www.scopus.com/inward/record.url?scp=84980491920&partnerID=8YFLogxK
U2 - 10.1159/000446203
DO - 10.1159/000446203
M3 - Article
C2 - 27587991
AN - SCOPUS:84980491920
SN - 1661-8769
VL - 7
SP - 153
EP - 159
JO - Molecular Syndromology
JF - Molecular Syndromology
IS - 3
ER -