A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia
(2006) In BMC Pediatrics 6(11).- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1136203
- author
- Ellaithi, M ; Gisselsson Nord, David LU ; Nilsson, Therese LU ; Abd El-Fatah, S ; Ali, T ; Elagib, A ; Ibrahim, M E and Fadl-Elmula, I
- organization
- publishing date
- 2006
- type
- Contribution to journal
- publication status
- published
- subject
- in
- BMC Pediatrics
- volume
- 6
- issue
- 11
- publisher
- BioMed Central (BMC)
- external identifiers
-
- pmid:16594994
- scopus:33646362264
- ISSN
- 1471-2431
- DOI
- 10.1186/1471-2431-6-11
- language
- English
- LU publication?
- yes
- id
- b15cc988-bf5c-4cf2-87c8-7467de2692c1 (old id 1136203)
- date added to LUP
- 2016-04-01 15:36:58
- date last changed
- 2022-01-28 06:11:09
@article{b15cc988-bf5c-4cf2-87c8-7467de2692c1, 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.}}, author = {{Ellaithi, M and Gisselsson Nord, David and Nilsson, Therese and Abd El-Fatah, S and Ali, T and Elagib, A and Ibrahim, M E and Fadl-Elmula, I}}, issn = {{1471-2431}}, language = {{eng}}, number = {{11}}, publisher = {{BioMed Central (BMC)}}, series = {{BMC Pediatrics}}, title = {{A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia}}, url = {{http://dx.doi.org/10.1186/1471-2431-6-11}}, doi = {{10.1186/1471-2431-6-11}}, volume = {{6}}, year = {{2006}}, }