A delXp11 carrying SRY sequences in an infant with ambiguous genitaliaReportar como inadecuado

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BMC Pediatrics

, 6:11

First Online: 04 April 2006Received: 13 December 2005Accepted: 04 April 2006


BackgroundSRY 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 situ hybridization FISH and polymerase chain reaction PCR.

Case presentationA 7-month infant was clinically diagnosed as an intersex case, with a phallus, labia majora and minora, a blind vagina and a male urethra. Neither uterus nor testes was detected by Ultrasonography. G-banding of his chromosomes showed 46,X,delXp11 and fluorescent in situ hybridization FISH analysis showed a very small piece from the Y chromosome translocated to the q-arm of the delX. Polymerase chain reaction PCR analysis revealed the presence of material from the sex-determining region Y SRY gene.

ConclusionIt is suggested that the phenotype of the patient was caused by activation of the deleted X chromosome with SRY translocation, which is responsible for gonadal differentiation.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2431-6-11 contains supplementary material, which is available to authorized users.

M Ellaithi, D Gisselsson, T Nilsson contributed equally to this work.

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Autor: M Ellaithi - D Gisselsson - T Nilsson - S Abd El-Fatah - T Ali - A Elagib - ME Ibrahim - I Fadl-Elmula

Fuente: https://link.springer.com/

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