TY - JOUR
T1 - Male with mosaicism for supernumerary ring X chromosome
T2 - Analysis of phenotype and characterization of genotype using array comparative genome hybridization
AU - Baker, Peter R.
AU - Tsai, Anne Chun Hui
AU - Springer, Michelle
AU - Swisshelm, Karen
AU - March, Jennifer
AU - Brown, Kathleen
AU - Bellus, Gary
PY - 2010/9
Y1 - 2010/9
N2 - Supernumerary, derivative, and ring X chromosomes are relatively common in Turner syndrome females but have been reported rarely in males. To date, less than 10 cases have been published, of which only 2 have been partially characterized in defining the breakpoints and genetic content of the derivative X chromosome. We describe a male with mosaicism for a supernumerary X chromosome (46,XY/47,XY, r(X)) who has multiple congenital anomalies, including features of craniofrontonasal dysplasia (Mendelian Inheritance in Man 304110) and the presence of ectopic female reproductive organs. Using comparative genomic hybridization array mapping, we determined that the derivative X is composed of a 24-Mb fragment that contains the regions Xp11.3 through Xq13.1 and lacks the XIST gene. This is the first report to describe a detailed molecular characterization of a ring X chromosome in a male by comparative genomic hybridization array analysis. We compare the clinical and molecular findings in this patient to other 46,XY, r(X) patients reported in the literature and discuss the potential role of disomy for known genes contained on the ring X chromosome.
AB - Supernumerary, derivative, and ring X chromosomes are relatively common in Turner syndrome females but have been reported rarely in males. To date, less than 10 cases have been published, of which only 2 have been partially characterized in defining the breakpoints and genetic content of the derivative X chromosome. We describe a male with mosaicism for a supernumerary X chromosome (46,XY/47,XY, r(X)) who has multiple congenital anomalies, including features of craniofrontonasal dysplasia (Mendelian Inheritance in Man 304110) and the presence of ectopic female reproductive organs. Using comparative genomic hybridization array mapping, we determined that the derivative X is composed of a 24-Mb fragment that contains the regions Xp11.3 through Xq13.1 and lacks the XIST gene. This is the first report to describe a detailed molecular characterization of a ring X chromosome in a male by comparative genomic hybridization array analysis. We compare the clinical and molecular findings in this patient to other 46,XY, r(X) patients reported in the literature and discuss the potential role of disomy for known genes contained on the ring X chromosome.
KW - Genetics
KW - craniofrontonasal dysplasia
KW - functional disomy
KW - supernumerary X ring
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U2 - 10.1097/SCS.0b013e3181ec6ac0
DO - 10.1097/SCS.0b013e3181ec6ac0
M3 - Article
C2 - 20856023
AN - SCOPUS:77957363059
SN - 1049-2275
VL - 21
SP - 1369
EP - 1375
JO - Journal of Craniofacial Surgery
JF - Journal of Craniofacial Surgery
IS - 5
ER -