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


METHODS
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.


CONCLUSIONS
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.
Ellaithi
M
M
Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan. Ellaithi_Mona@yahoo.com
Gisselsson
D
D
Nilsson
T
T
Abd El-Fatah
S
S
Ali
T
T
Elagib
A
A
Ibrahim
M E
ME
Fadl-Elmula
I
I
D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics* / Q000648:ultrastructure; D012734:Disorders of Sex Development / Q000235:genetics*; D024282:Genes, sry; D005835:Genitalia / Q000002:abnormalities*; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic; D049951:X Chromosome Inactivation