alexa Two Familial Cases of Robertsonian Transloacations 13;
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

Sushil Kumar Jaiswal1, Aishvarya Upadhyay2, Akhtar Ali1, Shashi Kala Upadhyay2, Ashok Kumar2 and Amit Kumar Rai1*

1Centre for Genetic Disorders, Banaras Hindu University, Varanasi, Uttar Pradesh, India

2Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India

*Corresponding Author:
Amit Kumar Rai
Centre for Genetic Disorders
Banaras Hindu University
Varanasi, Uttar Pradesh, India
E-mail: [email protected]

Received date: December 09, 2015; Accepted date:December 30, 2015; Published date: January 06, 2016

Citation: Jaiswal SK, Upadhyay A, Ali A, Upadhyay SK, Kumar A, et al. (2016) Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences. J Genet Syndr Gene Ther 7:283. doi:10.4172/2157-7412.1000283

Copyright: © 2016 Jaiswal SK, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Two familial cases of Robertsonian translocation 13;14 [rob t(13;14)] and its clinical manifestation in children are discussed in present report. In case-1, father and child both were having [rob t(13;14)] with karyotype [45,XYrob(13;14)(q10;q10)] and [46,XY,rob(13;14)(q10;q10),+21] respectively. The child was presented with clinical characteristics of Down syndrome (DS) due to trisomy 21. The child and father both were having soft sub-mucous cleft palate. In case-2, child and mother both were having rob t(13;14) with karyotype [45,XX,rob(13;14)(q10;q10)]. Mother was phenotypically normal but both of her children were presented with gross developmental delay for all the four areas, i.e., gross motor, adaptive, language and personal social behavior. Interestingly all the carriers of [rob t(13;14)] showed abnormal clinical features: like soft sub-mucous cleft palate with DS in case-1 child, soft sub-mucous cleft palate and Inter Chromosomal Effect (ICE) in case-1 father, miscarriage and birth of children with congenital problem in case-2 mother and gross developmental delay in case-2 child. It was assumed that the co-occurrence of [rob t(13;14)] and trisomy 21 in case-1 child was due to phenomenon of ICE in father carrying [45,XY,rob(13;14)(q10;q10)].

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