A case of prenatally diagnosed partial monosomy 13q syndrome
CUKUROVA MEDICAL JOURNAL, cilt.42, sa.1, ss.189-191, 2017 (ESCI, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 42 Sayı: 1
- Basım Tarihi: 2017
- Doi Numarası: 10.17826/cutf.280492
- Dergi Adı: CUKUROVA MEDICAL JOURNAL
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.189-191
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Süleyman Demirel Üniversitesi Adresli: Evet
Özet
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.