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.

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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.

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)


 

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