9.4 Chromosomes and chromosomal aberrations in man, methodology.
- Numerical and structural aberrations (disorders).
- Sex chromosomal aberrations – Klinefelter (XXY), Turner (XO), Super female (XXX), intersex and other syndromic disorders.
- Autosomal aberrations – Down syndrome, Patau, Edward and Cri-du-chat syndromes.
- Genetic imprints in human disease, genetic screening, genetic counseling, human DNA profiling, gene mapping and genome study.
* Down’s syndrome (10Marks 2015)
* Discuss chromosomal aberrations in man illustrating with examples. (15Marks 2015)
* Describe Turner and Kline filter Syndromes (15Marks 2014)
* Genetic Counselling (10Marks 2014)
* Genetic counseling (12Marks 2012)
* Discuss the chromosomal aberrations and manifestations of Klinefelter and Turner syndromes (20Marks 2013), * Klinefelter Syndrome (S.N – 2003)
* Chromosomal deletions and numerical fluctuations may lead to gross abnormalities in man.
Discuss with the help of suitable example. (30 Marks — 2010)
* Discuss different types of sex chromosomal aberrations. (L.Q -2007)
* What is Genetic Counseling? Discuss its relevance in the present day context. (L.Q – 2006), * Genetic counselling (S.N – 2002), * Genetic Counseling (S.N – 1998)
* Discuss the relevance of human DNA profiling and Gene Mapping in the prevention and cure of diseases. (L.Q -2001)
* Gene therapy (S.N – 1995)
* Discuss genetic and clinical aspects of the anomalies of sex chromosomes in man with
Special reference to the associated mosaic constitutions (L.Q – 1995)