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

Ellaithi, M ; Gisselsson Nord, David LU ; Nilsson, Therese LU ; Abd El-Fatah, S ; Ali, T ; Elagib, A ; Ibrahim, M E and Fadl-Elmula, I (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)
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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
2021-02-17 08:15:20
@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},
}