Sex Determination in Children with Ambiguous Genitalia by Polymerase Chain Reaction (PCR)
نویسندگان
چکیده
Sex determination in infants and children with ambiguous genitalia usually necessitates time-consuming and costly karyotyping .We have evaluated a simple,rapid and reliable method of postnatal sex determination by amplification of X and Y specific microsatellite markers DXS6797 and SRY respectively by polymerase chain reaction(PCR). Three probands M78, M59 and M61 with ambiguous genitalia were investigated.M78 showed a female complement of 46,XX while M59 and M61 have male complement of 46,XY.M78 was diagnosed as female pseudohermaphrodite while M59 and M61 were identified as male pseudohermaphrodite.Except M78, where a SRY sequence was identified by polymerase chain reaction (PCR) , the results of PCR were in agreement with those of cytogenetic analysis .The present study reaffirm the fact that the polymerase chain reaction (PCR) based sex determination is more sensitive, rapid and reliable than classical cytogenetic method for the detection of cryptic Yspecific SRY sequence in patients with ambiguous genitalia.
منابع مشابه
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, ...
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