© Kamla-Raj 2004                                                                          Int J Hum Genet, 4(3): 167-171 (2004)

 

 

Cytogenetic Analysis in Cases with Sex Anomalies

 

Anupam Kaur, Surbhi Mahajan and Jai Rup Singh*

 

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, 143005,

Punjab, India

 

KeyWords Cytogenetic; sex anomalies; mosaic; karyotype

Abstract The relationship between abnormal chromosomal constitution and sex anomalies has been established since the development of cytogenetic methods. Determination of chromosomal status is the prerequisite for precise diagnosis and counseling of any case with sex anomaly. It is also essential for defining genotypic and phenotypic correlation and understanding the basic mechanism involved in sex determination. In the present study, 156 cases with sex anomalies were investigated. 40 cases (25.6%) showed abnormal karyotypes. These included 10 cases with mosacism, of which 7 were with 45,X/46,XX chromosomal complement; 2 had marker chromosome, 45,X/46,X,+mar; and 1 case showed 46,XY/47,XXY constitution.

 

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