Serenat Eriş YALÇIN, And Yavuz, Mehmet Özgür Akkurt, Mekin Sezik

Prenatal olarak tanı konulan parsiyel monozomi 13q sendromu olgusu

13. kromozomun uzun kolundaki parsiyel delesyon mental retardasyon, gelişme geriliği ve çeşitli konjenital malformasyonlarla karakterize nadir görülen kromozomal bir bozukluktur. Etkilenenlerin fenotipleri delesyonun lokasyon ve boyutuna göre değişkenlik gösterir. Santral sinir sistemi, kardiyak, genitoüriner, iskelet sistem malformasyonları ve kraniyofasyal dismorfizm bulguları gözlenebilir. Erken genetik sonogram ve karyotipleme ile prenatal tanısı mümkündür. Major malformasyonların eşlik etmediği mental retardasyon ve gelişme geriliğinin ön planda olduğu olgularda prenatal tanı zor olabilir. Bu olguda, 14. gebelik haftasında multipl anormal ultrason bulguları sonucu karyotipleme yapılarak prenatal dönemde 13-q sendromu tanısı konulan bir hasta tanımlanmıştır.

A case of prenatally diagnosed partial monosomy 13q syndrome

Partial deletion of the long arm of chromosome 13 is a rare chromosomal aberration which is related to mental retardation, growth restriction and various congenital malformations. Central nervous system, cardiac, genitourinary, skeletal malformations and craniofacial dysmorphism can be observed. Prenatal diagnosis is possible by karyotyping and early genetic sonogram. Prenatal diagnosis can be difficult in cases that are not accompanied by major malformations but mental retardation and developmental delay in the forefront. In this report we aimed to present a case diagnosed 13-q syndrome prenatally as a result of karyotyping done due to multiple abnormal ultrasound findings in 14 weeks of pregnancy.

Keywords:

Delesyon monozomi, parsiyel, sendrom, 13q,

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