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Indian J Hum Genet ; 2013 Apr; 19(2): 262-265
Article Dans Anglais | IMSEAR | ID: sea-149439

Résumé

The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chromosome 6p arising from complex chromosomal rearrangement in the father. Karyotyping is the basic, cost-effective preliminary investigation in a child with mental subnormality or congenital anomalies.


Sujets)
Adulte , Enfant d'âge préscolaire , Chromosomes humains de la paire 3/génétique , Chromosomes humains de la paire 6/génétique , Chromosomes humains de la paire 11/génétique , Conseil génétique , Humains , Déficience intellectuelle/diagnostic , Déficience intellectuelle/épidémiologie , Déficience intellectuelle/génétique , /méthodes , Mâle , Translocation génétique
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