48,XYYY: A RARE CASE REPORT Sabnis AS, Bhusare D *Corresponding Author: Dr. Anjali S Sabnis, M.D. Professor and head, Department of Anatomy, MGM
Medical College and Hospital, Kamothe, Navi Mumbai - 410209. India, Mobile no: 9820493036, email
address: dranjus2003@yahoo.com page: 103 download article in pdf format
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Abstract
A case study of a 4 year old child with hypospadias
and cryptorchidism on the right side is presented. Combined
analysis by Karyotype and FISH showed a mosaic
pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%)
and 45,X (13%). Apart from hypospadias and cryptorchidism
there were no significant phenotypic changes observed.
Inheritance of this clonal abnormality was ruled out
as the karyotype patterns of the child’s father and brother
both showed a normal karyotype. For further management,
genetic counseling, and the correction of hypospadias and
the undescended testis were recommended .
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