Familial Balanced Reciprocal Translocation [t(16;22)(p11;q13)mat] in a Child With Constitutional Short Stature

Halit Akbas, Orhan Koksal, Capan Konca, Mahmut Balkan, Turgay Budak

Abstract


One of the reasons of most frequent application to Clinics of Pediatric Endocrinology is short stature. The major reasons are familial short stature, constitutional delay, systematic diseases, lack of nutrition and endocrine disorders. Chromosomal analysis is required for cases whose reason cannot be detected and especially has a dysmorphic appearance. Our patient was a 12 year old boy who had applied due to complaint of short stature, with no detected pathology in routine examinations and in whom reciprocal translocation that scoped chromosomes number 16 and 22 in the cytogenetic analysis conducted in the Genetic Diagnosis Laboratory was detected. In the cytogenetic examination conducted on family members, it has been detected that the child’s mother and mother’s father carried the same translocation, however, did not have any visible physical anomalies. According to the literature data at hand, our patient is the first short stature case that is a carrier of balanced reciprocal translocation between the 16 and 22 numbered chromosomes. In this study, the patient’s clinical and laboratory characteristics, detailed family history and genetic study results are discussed under the light of the literature information.




J Med Cases. 2012;3(2):149-152
doi: https://doi.org/10.4021/jmc534w

Keywords


Chromosome; Balanced translocation; Short stature

Full Text: HTML PDF
 

Browse  Journals  

     

Journal of clinical Medicine Research

Journal of Endocrinology and Metabolism

Journal of Clinical Gynecology and Obstetrics

World Journal of Oncology

Gastroenterology Research

Journal of Hematology

Journal of Medical Cases

Journal of Current Surgery

Clinical Infection and Immunity

Cardiology Research

World Journal of Nephrology and Urology

Cellular and Molecular Medicine Research

Journal of Neurology Research

International Journal of Clinical Pediatrics

 

 

 

 

 

Journal of Medical Cases, monthly, ISSN 1923-4155 (print), 1923-4163 (online), published by Elmer Press Inc.            
The content of this site is intended for health care professionals.
This is an open-access journal distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, which permits unrestricted
non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Creative Commons Attribution license (Attribution-NonCommercial 4.0 International CC-BY-NC 4.0)


This journal follows the International Committee of Medical Journal Editors (ICMJE) recommendations for manuscripts submitted to biomedical journals,
the Committee on Publication Ethics (COPE) guidelines, and the Principles of Transparency and Best Practice in Scholarly Publishing.

website: www.journalmc.org   editorial contact: editor@journalmc.org
Address: 9225 Leslie Street, Suite 201, Richmond Hill, Ontario, L4B 3H6, Canada

© Elmer Press Inc. All Rights Reserved.