Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature

ÇOĞULU M. Ö., Ozkinay F., GÜNDÜZ C., ÇANKAYA T., Ozkinay C.

GENETIC COUNSELING, cilt.14, sa.4, ss.419-423, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 14 Sayı: 4
  • Basım Tarihi: 2003
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.419-423
  • Anahtar Kelimeler: paracentric inversion, short arm of chromosome 1, mental retardation
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature: In general, carriers of paracentric inversions are phenotypically normal, although individual reports describe like occurrence of infertility, miscarriages and mental retardation in inversion carriers. We present a family with paracentric inversion of 1 p [karyotype: 46,XX/XY, inv(1) (p13.2p36.2)] in 7 of the 12 investigated family members. The index patient, a four year-old boy, was referred for motor and mental retardation. The possible relationship between the paracentric inversion and the MR/MCA syndrome in the index patient of this family is briefly discussed.