Prabhakara K, Angalena R, Ramadevi A Radha
Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, Hyderabad 500 076, India.
Genet Couns. 2004;15(1):37-41.
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.
我们描述了一名同时患有家族性9;11相互易位和XX性反转的患者。该患者患有隐睾症、发育迟缓、畸形特征和注意力缺陷多动障碍（ADHD）。先证者的核型为46,XX,t(9;11)(p22;p15.5)，SRY基因呈阳性。发现父亲是类似易位的携带者。此前尚未描述过XX性反转和常染色体相互易位的同时出现。本文描述了出现XX性反转以外特征的可能原因。
