Multiple congenital anomalies in a man with (X;6) translocation.
X;autosome translocations in humans, often associated with congenital anomalies or with gonadal dysgenesis syndromes, are informative for the study of X-linked gene expression and of the phenomenon of X chromosome inactivation. When such translocations occur in association with multiple congenital anomaly (MCA) syndromes, the observed phenotypes are not always attributable solely to disruption of specific genes, if X-inactivation spreads onto the translocated autosome, rendering some distal genes inactive. We report on a man with multiple congenital anomalies and a maternally inherited (X;6)(p22.1;p25) translocation. He has abnormalities not described in the Klinefelter or 6p deletion syndromes. His unique findings constitute a recognizable syndrome, which is likely caused by disomy for a region of Xp in conjunction with a partial 6p deletion.
Department of Pediatrics, University of Utah, Salt Lake City.
L E
LE
Sivak
J
J
Esbenshade
A R
AR
Brothman
B
B
Issa
R S
RS
Lemons
J C
JC
Carey
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002896:Chromosomes, Human, Pair 6; D004303:Dosage Compensation, Genetic; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009035:Mothers; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D014960:X Chromosome