A female infant case with tetrasomy 18p

Abstract

SUMMARY 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. Keywords: Tetrasomy 18, isochromosome 18p, marker chromosome OZET Tetrazomi 18p farkli sistemleri etkileyen seyrek bir kromozom anomalisidir. Izokromozom 18p denilen anormal ekstra bir kromozom nedeniyle olusur. Bu rahatsizlik genellikle gelisme geriligi, entelektuel bozukluk, kas tonusu anomalileri ve spesifik fasiyal bulgulara neden olur. Mikrosefali ve mental-motor retardasyonu olan dismorfik bir kiz cocugu bolumumuze sevk edildi. Fizik muayene sonrasi konvansiyonel sitogenetik yontemle hastanin problemini arastirdik. Karyotipi 47, XX, +mar olarak tespit edildi. Marker kromozomun orijinini belirlemek icin metafaz hucrelerine FISH calismasi yaptik. Hastada tetrazomi 18p tespit edildi. Hastamizin bulgu ve semptomlari bu hastalikla uyumluydu. Anahtar sozcukler: Tetrazomi 18, izokromozom 18p, marker kromozom