Yıldırım, Malik Ejder Cumhuriyet University - School of Medicine - Department of Medical Genetics, Turkey , Kurtulgan, Hande Küçük Cumhuriyet University - School of Medicine - Department of Medical Genetics, Turkey , Özer, Leyla Mikrogen Genetic Diagnosis Center, Turkey , Karakuş, Savaş Cumhuriyet University - School of Medicine - Department of Obstetrics and Gynecology, Turkey , Sezgin, İlhan Cumhuriyet University - School of Medicine - Department of Medical Genetics, Turkey

A female infant case with tetrasomy 18p

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Tetrasomy 18p is a rare chromosomal anomaly that can affect different systems. It is caused by an abnormal extra chromosome, called isochromosome 18p. This condition usually causes growth retardation, intellectual disability, abnormalities in muscle tone, and specific facial features. A dysmorphic female child with microcephaly and mental-motor retardation was referred to our department. After physical examination, we researched the problem of this patient using conventional cytogenetic procedure. Her karyotype was 47, XX, +mar. In order to determine the origin of marker chromosome, we performed fluorescence in situ hybridization (FISH) method on metaphase cells. Tetrasomy 18p was detected in this patient. Her signs and symptoms were consistent with this disorder.

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Tetrasomy 18 , isochromosome 18p , marker chromosome

Cumhuriyet Medical Journal

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