Kamla-Raj 2003                                                                                    Int J Hum Genet, 3(3): 191-194 (2003)

 

 

A Case Report of Genetic Malformations in a Jatapu Tribal
Girl of Andhra Pradesh

 

S. Narahari

 

Department of Anthropology, Andhra University, Visakhapatnam 530 003,

Andhra Pradesh, India

 

KEY WORDS Genetic malformations; polydactyly; brachydactyly 

 

ABSTRACT The combiantional occurrence of congenital malformations, which are autosomal dominant viz., Polydactyly and Brachydactyly is evidient in an 8 year old girl child in a family belonging to a tribal group - the Jatapu of Vizianagaram District of Andhra Pradesh. The pedigree analysis reveals that the affected girl's parents and brother are normal. However, her parents are consanguineous by marriage showing first cross cousin type. The anthropometric data on hand yield low values compared to parents and sibs. The probabale reason for such rare combination of malformations together in an individual may be due to varied biochemical mechanism that underlie the manifestation of gene for incomplete penetrance or expressivity. The present study suggest further probe to ascertain linkage analysis at protein level

 


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