In the children with Disorders of sexual development it is necessary to determine the sex of the baby as early as possible. Sex chromatin study was carried out in 60 subjects reared as females; out of that 16(26.67%) were chromatin negative and 44(73.33%) were chromatin positive. Parental consanguinity showed statistically significant association with abnormal sex chromatin. As sex chromatin study is less time consuming it helps to initiate the genetic conselling in DSD subjects.

Keywords: DSD, sex chromatin, Barr body, consanguinity, CAH

1. AboElella SS, Tawfik MAM, Abo El-fotoh W moustafa M. Molecular study of developmental sex disorders in children. Egypt J Med Hum Genet [Internet]. 2015;16(3):245–56. Available from: http://linkinghub.elsevier.com/retrieve/pii/S1110863015000129
2. El-Sherbiny M. Disorders of sexual differentiation: I. Genetics and pathology. Arab J Urol [Internet]. 2013 Mar [cited 2017 Aug 25];11(1):19–26. Available from: http://linkinghub.elsevier.com/retrieve/pii/S2090598X12001593
3. Gangane SD. Human genetics. 302 p.
4. Shawky RM, El-Awady MY, Elsayed SM, Hamadan GE. Consanguineous matings among Egyptian population. 2011 [cited 2017 Sep 9]; Available from: http://applications.emro.who.int/imemrf/Egypt_J_Med_Hum_Genet/Egypt_J_Med_Hum_Genet_2011_12_2_157_163.pdf
5. Amudha S, Aruna N, Rajangam S. Short Article Consanguinity and chromosomal abnormality. 2005;11(2):108–10.
6. Mokhtari R, Bagga A. Consanguinity, genetic disorders and malformations in the Iranian population. Acta Biol Szeged [Internet]. 2003;47:47–50. Available from: http://www2.sci.u-szeged.hu/ABS/2003/ActaHP/4747.pdf

Shabana Borate

Associate Professor, Genetics Division, Department of Anatomy,

Grant Government Medical College and

Sir J.J. Group of hospitals, Byculla, Mumbai 8, India

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