A case of prenatally diagnosed partial monosomy 13q syndrome


Creative Commons License

Yalcin S. E. , Yavuz A., Akkurt M. O. , SEZİK M.

CUKUROVA MEDICAL JOURNAL, cilt.42, ss.189-191, 2017 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 42 Konu: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.17826/cutf.280492
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.189-191

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.