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.

9.4 Chromosomes and chromosomal aberrations in man, methodology.

1. Numerical and structural aberrations (disorders).
2. Sex chromosomal aberrations – Klinefelter (XXY), Turner (XO), Super female (XXX), intersex and other syndromic disorders.
3. Autosomal aberrations – Down syndrome, Patau, Edward and Cri-du-chat syndromes.
4. Genetic imprints in human disease, genetic screening, genetic counseling, human DNA profiling, gene mapping and genome study.
   

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Previous Questions:

* 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)