Title: Detection of Pericentric Inversion of Y chromosome in an Infant with Down Syndrome

Authors: Rajesh Kumar Srivastava, AK Kapoor

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i2.30

Abstract

An infant aged 18 days had trisomy of chromosome 21 along with pericentric inversion of Y chromosome.  He failed to develop.  Later, he died.  Herewith, we report a case of chromosome 21 trisomy with percentric inversion of Y chromosome.

References

  1. Sheth FJ, Shah ushma J, Desai Manisha J, Sheth JJ. Clinical profile of inversion Y in people of Gujarat, West India.  Int J Hum Genet 2011; 11 (4): 245-248.
  2. Arasaki DT, Sparkes RS. Microtechnique for culturing leucocytes from whole blood.  Cytogenetics 1963; 2: 57-60.
  3. Veerbhadrappa SK, Chandrappa PR, Roodmal SY, Shetty SJ, Madhu Shankari Gunjioganur S, Mohan Kumar Kumbar P. Karyotyping: Current perspectives in diagnosis of chromosomal disorders. Sifa Med J 2016; 3: 35-40.
  4. Verma S, Rodriguez J, Dosik H. The clinical significance of pericentric inversion of the human Y chromosome: a rare “third” type of heteromorphism.  The J of heredity 1982; 73: 236-238.
  5. Jacobs PA. Structural abnormalities of the Y chromosome in man.  Nature 1966; 210: 352-354.
  6. Orye E, Verharren H. A peculiar t (21: 14) translocation, associated with a percentric inversion of the Y chromosome in mongol boy.  Ann Genet 1974; 17: 217-220.
  7. Sparkes RS, Muller HM, Veomett IC.  Inherited pericenetric inversion of a human Y chromosome in trisomic Down’s syndrome.  J Med Genet 1970; 7: 59-62.

Corresponding Author

Ashok Kumar Kapoor

D87 Mahanagar Extension, Vigyan Puri, Lucknow, U.P., India

Email: This email address is being protected from spambots. You need JavaScript enabled to view it.