A 46, XX / 46, XY mosaicism or chimerism diagnosed by Karyotyping
DOI:
https://doi.org/10.3329/bccj.v6i2.38591Keywords:
Chimerism, MosaicismAbstract
The presence of both 46, XX and 46, XY cell lines in a person is a very rare condition which is known as either chimerism or mosaicism. These conditions usually determined in early childhood during investigation of ambiguous genitalia. Our case is probably the first such report case in our country. Our case was ten months aged child, born to non-consanguinous couple referred to Cytogenetics unit of Immunology Department of BIRDEM General Hospital for chromosomal analysis and Karyotyping with the chief complaint of right sided undescended testis. He was normal looking and playful, presenting complaint was small penis with abnormal urethral opening and absence of one testis since birth. His developmental milestones were normal and intelligence was average. There was no history of congenital and genetic diseases in their family. On examination of the external genitalia the following features were noticed: stretched penile length (SPL) 3.5 cm with penoscrotal hypospadiasis. Right sided testis was not palpable as undescended and left sided testis was palpable in scrotum , volume of which was 2 to 3 ml.
Bangladesh Crit Care J September 2018; 6(2): 111-113
Downloads
85
74
Downloads
Published
How to Cite
Issue
Section
License
Upon acceptance for publication the copyright of the paper automatically transfers to the BCCJ and will not be published elsewhere either in part or whole without written permission of the copyright holder.
Except for personal use, no part of the materials published in this journal may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic, photocopying, recording or otherwise without the prior written permission of the publisher.