Gauchers disease (RGUHS Feb 2023, NTRUHS Dec 2022)
Elucidate lysosomal storage disorders(NTRUHS, Feb 2022)
Down’s syndrome (NTRUHS , Feb 2022, Jan 2013, Jan 2012, Jan 2008, Oct 2005, Sep 2003) (RGUHS-Jan 2008, Jan 2009, July 2012)
Trisomy – 21. what are genomic and phenotypic features of this disease (Pondicherry university June 2019)
Klinefelter syndrome (NTRUHS, March 2021, RGUHS Dec 2018, Pondicherry university 2018, NTRUHS Feb 2017, July, 2015, July 2013, 2011, Aug, 2009, Sep 2007)(RGUHS- Jan 2008, Jul 2008, July 2012)
Turner syndrome(NTRUHS April 2009, 2005, RGUHS- Jun 2009, Jun 2010, Jun 2011, Jun 2013, Dec 2013)
Explain malformation, disruption and deformation with examples (RGUHS- Jun 2010)
Sex chromatin(RGUHS- Dec 2010)
Karyotyping(RGUHS- Dec 2009)
Gauchers disease(RGUHS- Jan 2009)
VERY SHORT QUESTIONS (2 MARKS)
Give examples for sex linked disorders (SVIMS Oct 2021)
Name four autosomal dominant diseases (NTRUHS Feb 2020, Jan 2016)
Give two clinical features and two testicular findings in Klinefelter syndrome (DR NTRUHS July 2019)
List four clinical features of Klinefelters syndrome (NTRUHS Feb 2019)
Gauchers disease (RGUHS Dec 2018)
Name four clinical features of trisomy 21 (NTRUHS July 2016)
Name four (4) clinical features of Turner Syndrome (NTRUHS Aug 2014)
Name three (3) X-linked recessive and one (1) X-linked dominant disorders (NTRUHS Jan 2014, Aug 2009, May 2004)
Clinical features and karyotypes of Turner Syndrome (NTRUHS Jan 2011)
Name two cytogenic disorders involving sexchromosomes and two involving autosomes.(NTRUHS March 2010)
Down’s Syndrome (NTRUHS October, 2008)
Turners syndrome (RGUHS- Jan 2008) (NTRUHS April 2009, April 2005, April 2003)
Malformation (RGUHS- Jun 2011)
Klinefelter syndrome (RGUHS- Jun 2009, Jun 2011)
Sex chromatin (RGUHS- Jun 2008)
Karyotyping mosaics of Klinefelter syndrome (RGUHS- Dec 2009)