Ankara Üniversitesi Tıp Fakültesi Mecmuası 0365-8104 1307-5608 Ankara University Pediatric Metabolism Diseases Çocuk Metabolizma Hastalıkları Multipl Kongenital Anomali ve Mental Gerilikte Sitogenetik Cytogoneiic Investigations in Cases of Multiple Congenilal Anoma!ies and Mental Retardation Yüksel Memnune Ankara Ünişversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Kliniği 12 31 1977 30 4 803 821 10 01 1977 12 30 1977 Copyright © 1947, Ankara Üniversitesi Tıp Fakültesi Mecmuası 1947 Ankara Üniversitesi Tıp Fakültesi Mecmuası

Multipl konjenital anomali ve mental gerilikli olgularda sitogenetik araştır- ma yapıldı. Yaşları 1 gün - 18 yaş arasında değişen total 50 olgu, etyolojisi bilinmiyen multipl konjenital anomaliler ve mental gerilik göstermeleri nedeni ile araş- urıldı. Kromozomlar lenfosit kültürlerinde incelendi. Hastalardan ve 32 normal kontrolden elde edilen koromozom preparatları rastgele kodlandı ve körlemesine incelendi. Kontrol grubunda hiçbir kromozom anomalisine rastlanmadı. 50 hasta çocuktan 4'ünde (26 8) kromozom anomalisi saptandı. Bunlar 13 yaşında bir erkek çocukta 47,XY,G *- (olasılıkla trisomi 23); 3 günlük bir kız çocukta 47, XX, F * Cirisomi 20?) ve daha önce tanı konmamış 2.5 aylık 1.5 aylık iki erkek çocukta mosaik “Trisomi 18” sendromu idi.50 kişilik hasta grubundan 4 kişide kromozom anomalisi görülmesine kafşı- lık, 32 kişilik kontrol grubunda hiç görülmemesi istatistik olarak önemli değildir.Literatür ve çalışmamızdan elde ettiğimiz sonuçlar kromozom anomalileri ile fe- notip arasında bir neden ve etki ilişkisine ait kanıtlar göstermekle beraber, Istatistik olarak kesin bir sonuç için daha çok sayıda hasta ve normal kontrollerdeçalışmaya gereksinim vardır.

A total of 50 patienis aged 1 day- 18 yrs. were selected for the study be- cause of mental retardation and mulüple congenital anomali:s of unknown eti- ology. The chromosomes were studied in cultured Iymphocytes. Chromosome preparations from the patients and from the 37 normal controls were randomized,coded and examined blindiy.No chıromosomal abnormalities were İound in the controls, Of the 50 affected children, 4 (8 74) were found to have chromosomal abnormalitics. These inclu- ded : one year old male with a karyotype of 47,XY,G-* (presumabiy trisomy 22), one 3 days old female with a karyotype of 47,XX,F* (trisomy 207) and two male infants (2.5 and 1.5 months old) with previously undiagnosed mosaic 18 - trisomy syndrome.The occurence of chromosomal abnormalities in 4 of 50 patients compared with none 32 controls is not statisticaliy significant. Evidence for a cause - and - effect relationship between chromosomal abnormalities and phenotypes is probable, bul more data are needed for a statistically significant conclusion.

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