Öz
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.
Etik Beyan
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Destekleyen Kurum
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Proje Numarası
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Teşekkür
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Kaynakça
- I. Cohen MM Jr. Craniofacial disorders. In; Emery AEH and Rimoin DL (eds) . Principles and Practice of Medical Genetics (1st ed) Vol I. London, Churchill Livingstone, 1983, pp 576-621.
- 2. De Myer W Zemaan W Palmer CG : The face pnedicts the brain : Diagnostic sig nificance of median facial anomalies for holoprosencephaly (Arhinencephaly) Pediatrics 34 : 256-263, 1964.
- 3. Cohen MM : Chromosomal mosaicism associated with a case cyclopia. J Pediatr 69 (5) : 793-798, 1966.
- 4. Burrig KF Gebauer J Terinde R et al : Case of cyclopia with an unbalanced 3/7 translocation. Clin Genet 36 : 262-265. 1989.
- 5. Taysi K Tmartepe K : Trisomy D and cyclops malformation. Am J Dis Child 124 : 710-713, 1972.
- 6, Benawra R Mangurten HH Duffell DR : Cyclopia and other anomalies following maternal ingestion of salicylates. J Pediatr 96 (6) : 1069-1071, 1980.
- 7. Byrne PJ Silver MM Gilbert JM et al : Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28 61-65, 1987.
- 8. Warkany J : Cyclopia-Arhinencephaly Series. In : Warkany J (ed.) Congenital Malformations. Chicago, Year Book Medical Publishers Inc, 1971, pp 201-205.
- 9. Mc Kusiclc VA : Holoprosencephaly, Familial Alobar (Arhinencephaly; Cyclopia, included). In : Mc Kusick VA (ed), Medelian Interitance in Man (8 th ed). The John Kopkins University Press, Baltimore and London, 1988, p 987.
- 10. Smith DW Jones KL Holoprosencephaly anomalad. In : Smith DW and Jones KL (eds). Recognizable Pattern of Human Malformations (Third ed). W.B. Saunders Co., Philadelphia, pp 366-367, 1982.
- 11. Seidlitz G Kadow I Theel L et al : Genetische Aspekte und Humangenetische Beratung der Holoprosencephalie. Dt Gesundh.-Wesen 38 : 665-669, 1983.
- 12. Dalapiccola B Ferranti G : Duplication 3p and cyclopia. Clin Genet 36 : 490-491, 1989.
- 13. Canda MS Canda T Buldan Z ve ark Siklopia. Ege Univ. TIP Fak. Dergisi 26 (3) 1285-1291, 1987.
- 14. Babbott FL Binns W Ingalls TH : Field studies of cyclopian malformation in sheep. Arch Environ Health 5 : 109-113, 1962, (Cited at 9th ref.).
Autosmal Recessive Cyclopia Malformation; Prenatal Diagnosis and Postmortem Observation of a Single Case
Öz
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.
Etik Beyan
-
Destekleyen Kurum
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Proje Numarası
-
Teşekkür
-
Kaynakça
- I. Cohen MM Jr. Craniofacial disorders. In; Emery AEH and Rimoin DL (eds) . Principles and Practice of Medical Genetics (1st ed) Vol I. London, Churchill Livingstone, 1983, pp 576-621.
- 2. De Myer W Zemaan W Palmer CG : The face pnedicts the brain : Diagnostic sig nificance of median facial anomalies for holoprosencephaly (Arhinencephaly) Pediatrics 34 : 256-263, 1964.
- 3. Cohen MM : Chromosomal mosaicism associated with a case cyclopia. J Pediatr 69 (5) : 793-798, 1966.
- 4. Burrig KF Gebauer J Terinde R et al : Case of cyclopia with an unbalanced 3/7 translocation. Clin Genet 36 : 262-265. 1989.
- 5. Taysi K Tmartepe K : Trisomy D and cyclops malformation. Am J Dis Child 124 : 710-713, 1972.
- 6, Benawra R Mangurten HH Duffell DR : Cyclopia and other anomalies following maternal ingestion of salicylates. J Pediatr 96 (6) : 1069-1071, 1980.
- 7. Byrne PJ Silver MM Gilbert JM et al : Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28 61-65, 1987.
- 8. Warkany J : Cyclopia-Arhinencephaly Series. In : Warkany J (ed.) Congenital Malformations. Chicago, Year Book Medical Publishers Inc, 1971, pp 201-205.
- 9. Mc Kusiclc VA : Holoprosencephaly, Familial Alobar (Arhinencephaly; Cyclopia, included). In : Mc Kusick VA (ed), Medelian Interitance in Man (8 th ed). The John Kopkins University Press, Baltimore and London, 1988, p 987.
- 10. Smith DW Jones KL Holoprosencephaly anomalad. In : Smith DW and Jones KL (eds). Recognizable Pattern of Human Malformations (Third ed). W.B. Saunders Co., Philadelphia, pp 366-367, 1982.
- 11. Seidlitz G Kadow I Theel L et al : Genetische Aspekte und Humangenetische Beratung der Holoprosencephalie. Dt Gesundh.-Wesen 38 : 665-669, 1983.
- 12. Dalapiccola B Ferranti G : Duplication 3p and cyclopia. Clin Genet 36 : 490-491, 1989.
- 13. Canda MS Canda T Buldan Z ve ark Siklopia. Ege Univ. TIP Fak. Dergisi 26 (3) 1285-1291, 1987.
- 14. Babbott FL Binns W Ingalls TH : Field studies of cyclopian malformation in sheep. Arch Environ Health 5 : 109-113, 1962, (Cited at 9th ref.).
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Çocuk Genetik Hastalıkları, Patoloji , Tanı Radyografisi |
| Bölüm | Makaleler |
| Yazarlar | |
| Proje Numarası | - |
| Yayımlanma Tarihi | 30 Eylül 1990 |
| Yayımlandığı Sayı | Yıl 1990 Cilt: 43 Sayı: 3 |
