Article
A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia.
BMC pediatrics - 4 Apr 2006
Ellaithi M, Gisselsson D, Nilsson T, Abd El-Fatah S, Ali T, Elagib A, Ibrahim M E, Fadl-Elmula I
Abstract excerpt
BACKGROUND: SRY (sex-determining region, Y) is the gene responsible of gonadal differentiation in the male and it is essential for the regular development of male genitalia. Translocations involving the human sex chromosomes are rarely reported, however here we are reporting a very rare translocation of SRY gene to the q -arm of a deleted X chromosome. This finding was confirmed by cytogenetic, fluorescent in...
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