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Prabhakara, K. and Angalena, R. and Radha Rama Devi, A. (2004) Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development. Genetic Counseling (Geneva, Switzerland), 15 (1). pp. 37-41. ISSN 1015-8146

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Abstract

We describe a patient with the co-occurrence of a familial 9;11 reciprocal translocation and an XX sex reversal. The patient had cryptorchidism, delayed development, dysmorphic features and attention deficiency hyperactive disorder (ADHD). The proband's karyotype was 46,XX,t(9;11)(p22;p15.5) and he was positive for SRY gene. The father was found to be the carrier of the similar translocation. The co-occurrence of XX sex reversal and autosomal reciprocal translocation has not been described previously. The possible reasons for the manifestation of features other than those found in XX sex reversal is described.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 06 Nov 2015 11:19
Last Modified: 06 Nov 2015 11:19
URI: http://cdfd.sciencecentral.in/id/eprint/626

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