A del(X)(p11) carrying <it>SRY </it>sequences in an infant with ambiguous genitalia

• Main Authors: Abd El-Fatah S, Nilsson T, Gisselsson D, Ellaithi M, Ali T, Elagib A, Ibrahim ME, Fadl-Elmula I
• Format: Article
• Language: English
• Published: BMC 2006-04-01
• Series: BMC Pediatrics
• Online Access: http://www.biomedcentral.com/1471-2431/6/11

<p>Abstract</p> <p>Background</p> <p><it>SRY </it>(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 <it>in situ </it>hybridization (FISH) and polymerase chain reaction (PCR).</p> <p>Case presentation</p> <p>A 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,del(X)(p11) and fluorescent <it>in situ </it>hybridization (FISH) analysis showed a very small piece from the Y chromosome translocated to the q-arm of the del(X). Polymerase chain reaction (PCR) analysis revealed the presence of material from the sex-determining region Y (SRY) gene.</p> <p>Conclusion</p> <p>It is suggested that the phenotype of the patient was caused by activation of the deleted X chromosome with <it>SRY </it>translocation, which is responsible for gonadal differentiation.</p>