TY - JOUR
T1 - Disomy of distal Xq in males
T2 - Case report and overview
AU - Novelli, Antonio
AU - Bernardini, Laura
AU - Salpietro, Damiano Carmelo
AU - Briuglia, Silvana
AU - Merlino, Maria Valeria
AU - Mingarelli, Rita
AU - Dallapiccola, Bruno
PY - 2004/7/15
Y1 - 2004/7/15
N2 - A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.
AB - A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.
KW - Chromosome
KW - Disomy
KW - Duplication
KW - FISH
KW - Xq28
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U2 - 10.1002/ajmg.a.30088
DO - 10.1002/ajmg.a.30088
M3 - Article
C2 - 15214009
AN - SCOPUS:4444284413
VL - 128 A
SP - 165
EP - 169
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -