TY  - JOUR
T1  - Otozomal Resesif Siklops Malformasyonu: Bir Vakanın Prenatal Tanısı Ve Postmortem İncelemesi
TT  - Autosmal Recessive Cyclopia Malformation; Prenatal Diagnosis and Postmortem Observation of a Single Case
AU  - Erçal, Murat Derya
PY  - 1990
DA  - September
JF  - Ankara Üniversitesi Tıp Fakültesi Mecmuası
PB  - Ankara University
WT  - DergiPark
SN  - 0365-8104
SP  - 809
EP  - 816
VL  - 43
IS  - 3
LA  - tr
AB  - Genetik damsma için kliniÈimize gönderilen, burunsuz ve gözsüz ölü klZ çocuklar doguran ve akraba olan bir çiftin, yapllan prenatal tam Gallsmalarmda, annenin ve erkek kardesinin tesadüfi, 9 no.lu kromozomun perisentrik inversiyonunu tasldlžl görüldü. Dördüncü gebelikte, ultrasonografi ve amniyosentez takipleri ile sažlarn bir kız çocugu doğurtuldu. Besinci gebeliğinde ise, birkaç kez tekrarlanan USG'lerinde holoprozensefalik fetus oldugunun görülmesi üzerine, 22 ci haftada terapotik abort-us yapt1T11a.n fetus bilgisayarll beyin to mografisiyle ve morfolojik olarak incelendi ve otozomal resesif Siklopia/holoprozensefali sendromu tanısı konuldu.
KW  - genetik
KW  - fetüs
KW  - anomali
N2  - A consangineous couple who referred for genetic counselling for having two female stillbirths with absent eyes, nose and nostrils and a spontaneous abortion, were followed up for prenatal diagnosis and the mother and her abortion, were followed up for prenatal diagnosis and the mother and her brother exhibited a coincidental inversion of chromosome 9. Further at the fourt hpregnancy, with the help of USG and amniocentesis, they had a healthy female baby. However, at the fifth pregnancy when we have detected an abnormal USG with a holoprosencephalic fetus at the 18th weeks, therapoetic abortion was performed at 22nd week and the fetus examined with computed tomography and morphologically with the diagnosis of autosomal recessive cyclopia/holoprosencephaly syndrome.
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UR  - https://dergipark.org.tr/en/pub/autfm/issue//1723579
L1  - https://dergipark.org.tr/en/download/article-file/4976050
ER  -