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
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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 patient’s 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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