TY  - JOUR
T1  - Fate of a Consanguineous Marriage: A Case Report
AU - Rehan Qureshi, Mohammad AU - Fatima Qureshi, Viquar AU - Farhan Qureshi, Mohammad AU - Al Diab, Abdurrahman AU - Foraih Al-Anazi, Abdullah AU - Qureshi, S. 
JO  - Research Journal of Medical Sciences
VL  - 6
IS  - 2
SP  - 51
EP  - 55
PY  - 2012
DA  - 2001/08/19
SN  - 1815-9346
DO  - rjmsci.2012.51.55
UR  - https://makhillpublications.co/view-article.php?doi=rjmsci.2012.51.55
KW  - fatal genetic disorders
KW  -baby
KW  -Consanguineous marriage
KW  -locus
KW  -5p14
AB  - Consanguineous marriages are the crucial factors for several genetic disorders 
and dreadful syndromes which are the bases of morbidity and mortality in the human 
population. The genetic disorders are linked to abnormalities in either p or q 
arms of specific chromosomes. However, reports in the literature are not firm 
on specificity of phenotypic response to the precise genomic region. In view of 
a paucity of literature on the subject and the controversies arising with respect 
to the discordance in phenotypic response, this particular case was found interesting 
for a report in the literature. This is about a baby whose mother was married 
to her cousin (a consanguineous marriage). The parents had a family history of 
cerebral palsy and mental retardation. Genetic analysis of the baby showed deletion 
at 5p14 and the father had translocation between chromosome 5p13 and 10p14 while 
the mother was genetically normal. The baby was born healthy but had several complications, 
till he died at the age of 5. The different complications that the baby suffered 
included: delayed motor activity and developmental disabilities, psychological 
derrangement, mental retardation, frequent convulsions, microcephali, delayed 
speech and language development, dysmorphic face, low set ears and hyper reactivity. 
There was gross discordance in the specific genome region and the phenotypic observations 
which appears to be due to the interaction between different loci at 5p in addition 
to epigenetic influence.
ER  -