April - June 2006, Volume 2, Issue 2

Ioan DM, Neamtu C

45X/46XX Turner karyotype displaying clinical features of the Kabuki syndrome. Report on a 4-years old girl

Acta Endo (Buc) 2006, 2 (2): 223-226
doi: 10.4183/aeb.2006.223

We report on a 4-years old girl with mosaic Turner karyotype: 45X/46XX (10% the 45,X line, 90% 46,XX line) / karyotype performed by the classical method and direct FISH (centromeres X and Y on buccal smears). As turnerian manifestations she presented short stature (more than –2 SD), mental retardation and slightly webbed neck. The most clinical manifestations were suggestive for the Kabuki syndrome, i.e.: -peculiar facies: very long palpebral fissures, arching of the eyebrows, short nasal septum, cleft palate, open mouth; -ventricular septal defect, left renal agenesis, dislocated hip on the left side. We present shortly the Kabuki and Turner syndromes and discuss the relationship between them.

Keywords: 45X/46XX mosaic Turner syndrome, Kabuki syndrome, multiple congenital anomalies (MCA), mental retardation (MR), cleft of the palate, direct FISH cen. X and Y

Correspondence: Doina Maria Ioan, MD, Institute of Endocrinlogy, 34-36 Bd. Aviatorilor, Bucharest, Romania, e-mail: instparhon@artelecom.net