Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development.
We describe a patient with the co-occurrence of a familial 9;11 reciprocal translocation and an XX sex reversal. The patient had cryptorchidism, delayed development, dysmorphic features and attention deficiency hyperactive disorder (ADHD). The proband's karyotype was 46,XX,t(9;11)(p22;p15.5) and he was positive for SRY gene. The father was found to be the carrier of the similar translocation. The co-occurrence of XX sex reversal and autosomal reciprocal translocation has not been described previously. The possible reasons for the manifestation of features other than those found in XX sex reversal is described.
Prabhakara
K
K
Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, Hyderabad 500 076, India.
Angalena
R
R
Ramadevi
A Radha
AR
D001289:Attention Deficit Disorder with Hyperactivity / Q000150:complications / Q000235:genetics; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics*; D012734:Disorders of Sex Development; D024282:Genes, sry / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*