Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis

BALTACI, Volkan; YILMAZ, Zerrin

Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis

Zerrin YILMAZ, (Başkent Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Ankara, Türkiye)

Volkan BALTACI (Girilmedi)

Gazi Medical Journal

17 0

Yıl: 2002 Cilt: 13 Sayı: 4 Sayfa Aralığı: 203 - 206 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis

Öz:

Holoprozensefali, prozensefali veya önbeyin gelişiminin bozukluğundan kaynaklanan bir serebral malformasyondur. Anormal yüz gelişimi ve diğer vücut anormallikleri ile birlikte olduğunda altta yatan sebep genellikle kromozomal bozukluklardır. Holoprozensefalinin en belirgin kromozomal nedenleri trizomi 13, trizomi 18, triploidi, del(2p), dup(3p), del(7q), (13q) duplikasyonu ve ddesyonu, del(18p), del(21q), l ve 7, 3 ve 7, 7 ve 18. kromozomları içeren ailesel resiprokal translokasyonlardır. Bu çalışmada gebeliğin 20. Haftasında ultrasonografl ile semilobar holoprozensefali , proboskis ve siklopi saptanan bir fetusun amnion sıvısı hücrelerinden kromozom eldest ve analizi yapıldı. Analiz sonucunda fetusta dérivatif kromozom 7 saptandı. Ebeveynlerde yapılan sitogenetik çalışma 7 ve 13. kromozomları içeren resiprokal bir translokasyon taşıyıcılığı olduğunu gösterdi. 7q terminal delesyonuna sahip hastalar arasında klinik özelliklerin değişkenlik gösterdiği bilinmektedir. Bizim vakamızda, parsiyel monozomi 7q' ya ek olarak parsiyel trizomi 13q ile birlikte fetusda semilobar holoprozensefali, proboskis ve siklopi bulunmaktadır.

Anahtar Kelime: Holoprosensefali Trizomi Kromozom sapmaları Sinir sistemi malformasyonları Anomaliler, çoklu Olgu sunumu Kromozom bozuklukları Doğum öncesi tanı

Konular: Genel ve Dahili Tıp

Semilobar holoprozensefali ve proboskisli bir fetusda parsiyel trizomi 13q(q13-->qter) ve monozomi 7q(q36-->qter)'ün doğum öncesi tanısı

Öz:

Holoprosencephaly is a cerebral malformation that arises from incomplete midline cleavage of the incipient forebrain or prosencephalon, When holoprosencephaly occurs with severe facial dysmorphism and associated anomalies, the condition is more likely to be chromosomal. Trisomy 13, trisomy 18, triploidy, del(2p), dup(3p), del(7q), duplication and deletion of (1 Bq), del(18p), del(21q), and unbalanced familial reciprocal translocations involving chromosomes 7 and 1, 7 and 3, and 7 and 18 are the main cytogenetic causes of holoprosencephaly. In this study, we performed cytogenetic analysis from the amniotic fluid of a fetus with semilobar holoprosencephaly, proboscis in inferior frontal region central site and cyclopia was determined by ultrasonography at 20 weeks of gestation. We found derivative chromosome 7. Cytogenetic analysis of the parents showed paternal balanced translocation between chromosomes 7 and 13. It is known that patients with 7q terminal deletions may present a strong variability of clinical features. Our case further adds to the evidence that the interaction of partial trisomy ofl3q and partial monosomy of 7q is associated with semilobar holoprosencephaly, proboscis and cyclopia.

Anahtar Kelime: Chromosome Disorders Prenatal Diagnosis Holoprosencephaly Trisomy Chromosome Aberrations Nervous System Malformations Abnormalities, Multiple Case report

Konular: Genel ve Dahili Tıp

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	YILMAZ Z, BALTACI V (2002). Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. , 203 - 206.
Chicago	YILMAZ Zerrin,BALTACI Volkan Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. (2002): 203 - 206.
MLA	YILMAZ Zerrin,BALTACI Volkan Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. , 2002, ss.203 - 206.
AMA	YILMAZ Z,BALTACI V Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. . 2002; 203 - 206.
Vancouver	YILMAZ Z,BALTACI V Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. . 2002; 203 - 206.
IEEE	YILMAZ Z,BALTACI V "Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis." , ss.203 - 206, 2002.
ISNAD	YILMAZ, Zerrin - BALTACI, Volkan. "Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis". (2002), 203-206.

APA	YILMAZ Z, BALTACI V (2002). Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. Gazi Medical Journal, 13(4), 203 - 206.
Chicago	YILMAZ Zerrin,BALTACI Volkan Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. Gazi Medical Journal 13, no.4 (2002): 203 - 206.
MLA	YILMAZ Zerrin,BALTACI Volkan Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. Gazi Medical Journal, vol.13, no.4, 2002, ss.203 - 206.
AMA	YILMAZ Z,BALTACI V Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. Gazi Medical Journal. 2002; 13(4): 203 - 206.
Vancouver	YILMAZ Z,BALTACI V Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis. Gazi Medical Journal. 2002; 13(4): 203 - 206.
IEEE	YILMAZ Z,BALTACI V "Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis." Gazi Medical Journal, 13, ss.203 - 206, 2002.
ISNAD	YILMAZ, Zerrin - BALTACI, Volkan. "Prenatal diagnosis of partial trisomy 13q(13-->qter) and monosomy 7q(q36-->qter) in a fetus with semilobar holoprosencephaly and proboscis". Gazi Medical Journal 13/4 (2002), 203-206.