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

CASE REPORT

A 4 year old male child with hypospadias with cryptorchidism on the right side presented to the MGM hospital, Navi Mumbai on the 11TH of June 2017. There was an absence of dysmorphism or any other phenotypic changes. [Figure 1] Upon examination of the left testis, it was observed that the scrotal sac appeared normal in size, shape and echo texture on ultrasonography with post orchidopexy changes . The right testis was not visualized in the scrotal sac nor in inguinal region. This was confirmed by MRI scanning. To further investigate any association between chromosomal aberration and congenital anomalies, the patient was referred to the cytogenetic laboratory in the Department of Anatomy. Cytogenetic analysis for conventional karyotyping was done by 72 hours culturing, harvesting and the GTG-Banding method [3]. Imaging was done by using Metasystem software and a Carl Zeiss microscope. 50 complete and well spread metaphases were selected for reporting. Analysis revealed the presence of two extra Y chromosomes in 50 metaphase cells. By using the microscope Axioimager Z2 from Zeiss, Metasystem ISIS software and a Vysis CEP probe for X (green signal) Y (orange signal) and 18 (aqua signal), Fluorescence in situ hybridization (FISH) analysis was done at Jaslok Hospital, Mumbai to investigate chromosomal pattern. Analysis showed a mosaic karyotype with the presence of four cell lines 48,XYYY (73%); 47,XYY (7%); 46,XY(7%) and 45,X(13%) in a mosaic pattern. In order to rule out the role of inheritance, the patientís father and brother were advised to do karyotyping as well. This showed normal male chromosomal patterns. 48,XYYY is a rare sex chromosomal numerical abnormality, for which genetic counselling is strongly recommended.



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