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Case Reports
. 2006 Apr 4:6:11.
doi: 10.1186/1471-2431-6-11.

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

M Ellaithi  1 , D Gisselsson, T Nilsson, S Abd El-Fatah, T Ali, A Elagib, M E Ibrahim, I Fadl-Elmula
Affiliations
Case Reports

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

M Ellaithi et al. BMC Pediatr. .

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.

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Figures

Figure 1
Figure 1
The external genitalia of the 7- month Sudanese infant who was clinically diagnosed as intersex.
Figure 2
Figure 2
Metaphase cell showing 46,X,del(X)(p11).
Figure 3
Figure 3
FISH analysis by whole chromosome painting shows a translocation of SRY material to the q-arm of the del(X). The X chromosome is painted in green and the Y chromosome in red/orange. Normal cross hybridization of the Y painting probe is seen in proximal Xq of both the normal X chromosome and the del(X), whereas normal cross hybridization to Xp is only seen in the normal X chromosome as these sequences are missing from del(X). The del(X) also shows a signal at distal Xq, corresponding to translocated Y sequences. Inset (A): SRY material (red/orange) is located at distal Xq while X centromere is in green. Inset (B): The G- banding of del(X) and normal X.
Figure 4
Figure 4
The PCR analysis showing the presence of SRY material in patient blood. Lane 1 patient sample, lane 2 positive control, lane 3 negative control, lane 6 123 DNA markers.
See this image and copyright information in PMC

References

    1. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature. 1990;346:240–244. doi: 10.1038/346240a0. - DOI - PubMed
    1. Clépet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell- Badge R, Goodfellow PN. The human SRY transcript. Hum Mol Genet. 1993;2:2007–2012. - PubMed
    1. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature. 1991;351:117–121. doi: 10.1038/351117a0. - DOI - PubMed
    1. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet. 1992;88:471–474. doi: 10.1007/BF00215684. - DOI - PubMed
    1. Iida T, Nakahori Y, Komaki R, Mori E, Hayashi N, Tsutsumi O, Taketani Y, Nakagome Y. A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet. 1994;3:1437–1438. - PubMed

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