Balkan Journal of Medical Genetics

DOUBLE ISOCHROMOSOME X, A RARE CYTOGENETIC VARIANT OF TURNER SYNDROME: A CASE REPORT AND A REVIEW OF THE LITERATURE
Zerrouki K.1,2, Babakhouya A.1,3, Tajir M.1,2
*Corresponding Author: Khawla Zerrouki; Address: Medical Genetics Laboratory, Mohammed VI University Hospital, BP 4806 Oujda University, 60049 Oujda, Morocco. Phone number: +212642540172; E-mail: khawlazerroukii@gmail.com
page: 4

PATIENTS AND METHODS

An 11-year-old female proband, the second of her siblings, non-consanguineous, her father (60 y/o) and mother (50 y/o). The pregnancy was well followed. The mother had a full term birth by a cesarean delivery due to the mother’s narrow pelvis. There was no neonatal distress. The child’s birth weight was 1500 g. Psychomotor development was normal except a delayed walk at the age of 3 years a half. The clinical examination of the patient showed short stature, with a height of 115 cm (-3 SD) and a weight of 21 kg (-2 SD), palpebral slits slightly oriented up and out, low posterior hairline, broad chest with widely spaced nipples and a pectus excavatum. The patient is not yet pubescent (B1P1 according to tanner classification). These clinical findings have led us to suspect Turner Syndrome. We performed a constitutional postnatal karyotype from a peripheral blood sample with a lymphocyte culture in our laboratory, using conventional RHG banding, and we analyzed 70 metaphases.

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