Antenatal Diagnosis of Partial Trisomy 8 and Partial Monosomy 1: A Case Report

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Güven D., Bakay A., Ozdemir A., Koçak İ.

INTERNATIONAL JOURNAL OF HUMAN GENETICS, cilt.12, sa.3, ss.191-195, 2012 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 3
  • Basım Tarihi: 2012
  • Doi Numarası: 10.31901/24566330.2012/12.03.09
  • Dergi Adı: INTERNATIONAL JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.191-195
  • Anahtar Kelimeler: Partial Trisomy 8, Partial Monosomy 1, Echogenic Bowel, Giant Choroid Plexus Cyst, PRENATAL-DIAGNOSIS, MOSAICISM, CHROMOSOME-8
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

A case of prenatally diagnosed partial trisomy 8 and partial monosomy 1 is described. The syndrome is associated with skeletal and cardiac anomalies, as well as hepatic calcification, presented with severe central nervous system malformations. Homogenous and complete trisomy 8 i an extremely rare case. In this case routine karyotyping with (Giemsa-Trypsin)GTG banding for diagnosis was carried out from amniotic fluid at 16 weeks of gestation. Peripheral blood of both parents were karyotyped. Only the father was found to have an abnormal karyotype; resiprocal translocation between chromosome I p and 8p [46,XY,t(1;8)(p36.1;p21.3)]. The fetal karyotype was, [46,X Y,der(1)del(1)(p36.1 -> pter) dup(8)(p21.3 -> pter) t(1;8)(p36.1;p21.3)]. This reported case of partial trisomy for this region of chromosome 8 is the first prospectively diagnosed antenatal case in which ultrasound anomalies are noted.