Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion

Zamani A. G., Acar A., Durakbasi-Dursun G., Yildirim M. S., CEYLANER S., Tuncez E.

American Journal of Medical Genetics, Part A, cilt.164, sa.5, ss.1239-1244, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 164 Sayı: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/ajmg.a.36410
  • Dergi Adı: American Journal of Medical Genetics, Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1239-1244
  • Anahtar Kelimeler: chromosomal abnormalities, chromosome 18, pericentric inversion, parental origin, BIPOLAR DISORDER, MOLECULAR CHARACTERIZATION, RECOMBINANT CHROMOSOME-18, MONOZYGOTIC TWINS, PHENOTYPE, DELETION
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21→qter and a deletion of p11.2→pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. © 2014 Wiley Periodicals, Inc.