Abstract
This study includes 42 referred cases for cytogenetic analysis with observable genital abnormalities. These cases were further divided into suspected hermaphrodite, hypogonadism in males ,swelling in inguinal region and so on. These were subjected to karyotyping studies .Out of 42 subjects 34( 80.95%) revealed normal karyotype, 3 (7.14%) cases of numerical,1 (2.38%) structural, 1(2.38%) mosaic, 3(7.14%) case of sex reversal abnormality were observed.
Keywords: Ambiguous genitalia, cytogenetics, Barr body, Klinefelter syndrome.
References
- Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard. Thompson & Thompson Genetics in Medicine. Eighth edi t ion. India: Elsevier; 2016.
- Cytogenetic and molecular study in intersex Soheir S. Abou El Ella, Maha A.M. Tawfik*, Dalia M. Ellahony, Nahla M. Anees Pediatric Department, Faculty of Medicine, Menoufiya University, Egypt Received 8 May 2012; accepted 4 June 2012h
- Angham Al-Mutair, M. Anwar Iqbal, Nadia Sakati, and Abdullah Ashwal Published Online:7 Oct 2004 https://doi.org/10.5144/0256-4947.2004.368
- Anupam Kaur, Jai Rup Singh. Chromosomal abnormalities: Genetic disease burden in India. Int. J Hum Genet.2010; 10(1-3):1–
- Ieuan A Hughes, Chris Houk, S Faisal Ahmed, Peter A Lee, Lawson Wilkins Pediatric Endocrine Society, et al. Consensus statement on management of intersex disorders. Journal of pediatric urology. 2006; 2(3):148–
- Peter A Lee. International consensus conference on intersex organized by the lawson wilkins pediatric endocrine society and the european society for pediatric endocrinology. consensus statement on management of intersex disorders. Pediatrics.2006; 118:e488–
- Mohamed El-Sherbiny. Disorders of sexual differentiation: I. genetics and pathology. Arab journal of urology.2013; 11(1):19–
- Prajnya Rangnath. Approach to disorders of sex development. genetic clinics, Newsletter of Indian Academy of Medical Genetics. 2013;Jan- March;6(1):7-13.
Corresponding Author
Prasad Kulkarni
Associate Professor, Genetic Division, Department of Anatomy, Grant Government Medical College, and Sir J.J. Groups of hospitals, Mumbai 400008, India
DOI: https://dx.doi.org/10.18535/jmscr/v9i10.10
