Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

Bernasconi F., Karaguzel A., Celep F., Keser I., Luleci G., Dutly F., ...Daha Fazla

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.59, sa.5, ss.1114-1118, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 5
  • Basım Tarihi: 1996
  • Dergi Adı: AMERICAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1114-1118
  • Karadeniz Teknik Üniversitesi Adresli: Hayır

Özet

A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2.