Tahir Jameel, Masood Anwar, Karamat Ahmed Karamat.
Recurrence of Klinefelter syndrome in a family, Case report and Review of the Literature.
Pak J Pathol Jan ;10(4):45-9.

Klinefelter syndrome is a comparatively rare disorder. Its incidence increases with advancing maternal age. The extra X chromosome in a male results in clinical complex of poorly developed secondary sexual characters, small testis, infertility and mental retardation to a certain extent. Non disjunction during the maternal meiotic division results in an extra copy of X chromosome in the foetus. X-autosome translocation in the parents may result in transfer of extra X chromosomal material. It this extra material is not subjected to inactivation, it results in clinical picture of Klinefelter Syndrome. We are presenting recurrence of Klinefelter Syndrome in a family. Karyotypic analysis of the parents showed balance X-autosomal translocation in the mother. Prenatal cytogenetic studies on CVS of Amniotic fluid can be utilised to diagnose the affected offspring at an early stage of pregnancy.

Two brothers aged 13 and 15 years were referred to the department of Hematology and Clinical Cytogenetics, Armed Forces Institute of Pathology, Rawalpindi for the karyotypic studies. Both the brothers were tall and had mild mental retardation, small penile mass, small testis and the absence of secondary sexual characters more prominent in the elder brother. Their mother gave history of three abortions in the 2nd trimester. The parents were first cousins. The cytogenetic studies were carried out on peripheral blood samples. Synchronised blood cultures were set up using standard technique. Culture medium contained fetal calf serum (Flow Scotland), 15 ml and L-Glutamine (Sigma, UK). 1 ml per 100 ml of RPMI-1640 (Sigma, UK). Lymphocyte stimulation was done with Phytohemagglutinin (Murex UK). The Cytogenetic analysis revealed 46 XY karyotype in both the brothers. The partial trisomy of chromosome X was present in all the metaphases analysed. Replication banding analysis revealed that the nornal and the translocated segment of X chromosome were in active state. Keeping in view the clinical presentation and cytogenetic findings, a diagnosis of partial Klinefelter syndrome was made.

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