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Open Access Case report

A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia

M Ellaithi123*, D Gisselsson4, T Nilsson4, S Abd El-Fatah1, T Ali5, A Elagib6, ME Ibrahim1 and I Fadl-Elmula7

Author Affiliations

1 Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan

2 International University of Africa, Faculty of Medicine and Health Sciences, Khartoum, Sudan

3 The Orchids society for congenitally malformed children, Khartoum, Sudan

4 Department of Clinical Genetics, University Hospital, Lund, Sweden

5 Khartoum Teaching Hospital, Department of Radiology, Khartoum, Sudan

6 Tropical Medical Research Institute, Khartoum, Sudan

7 Al Neelain Medical Research Center, Faculty of Medicine, Al Neelain University, Khartoum, Sudan

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BMC Pediatrics 2006, 6:11  doi:10.1186/1471-2431-6-11

Published: 4 April 2006

Abstract

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 situ hybridization (FISH) and polymerase chain reaction (PCR).

Case presentation

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 in situ 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.

Conclusion

It 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.