(2014) A newborn with ambiguous genitalia and a complex X;Y rearrangement. Iranian Journal of Reproductive Medicine. pp. 351-356.
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Abstract
Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated. Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity. © 2014, Research and Clinical Center for Infertitlity. All rights reserved.
Item Type: | Article |
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Keywords: | ambiguous genitalia; Article; case report; chromosome rearrangement; clinical examination; clinodactyly; comparative genomic hybridization; female; fluorescence in situ hybridization; forehead prominence; gene dosage; head and neck malformation; histology; human; hypertelorism; hypospadias; karyotype 46,XX; low set ear; lymphocyte culture; microtia; newborn; ovotestis; pregnancy; saddle nose; scrotum like labia majora; spontaneous abortion; thin lip; unic urethral meatus; urethra malformation; urogenital system; X chromosome inactivation; Y chromosome |
Page Range: | pp. 351-356 |
Journal or Publication Title: | Iranian Journal of Reproductive Medicine |
Volume: | 12 |
Number: | 5 |
Publisher: | Research and Clinical Center for Infertitlity |
Depositing User: | ms soheila Bazm |
URI: | http://eprints.ssu.ac.ir/id/eprint/8979 |
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