Tuberous sclerosis: Clinical evaluation in a family and implications for genetic counseling

Elcioglu N., Karatekin G., Elcioglu M., Nuhoglu A., Cenani A.

GENETIC COUNSELING, cilt.9, sa.2, ss.131-138, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 2
  • Basım Tarihi: 1998
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.131-138
  • Anahtar Kelimeler: tuberous sclerosis, genetic counseling, COMPLEX, TSC2
  • Marmara Üniversitesi Adresli: Hayır

Özet

Tuberous Sclerosis: Clinical evaluation of a family and implications for generic counseling: Tuberous sclerosis is an autosomal-dominant neurocutaneous disease, characterized by hamartomas in various organs. In a nuclear family, three persons in two generations were diagnosed as having tuberous sclerosis, with multiple hypomelanotic dermal patches and epilepsy. Computerized tomography showed subependymal calcifications and ophthalmological investigations indicated phakomas as retinal involvement in all of them. Two distinct chromosomal loci are linked to tuberous sclerosis complex, and carrier detection and prenatal diagnosis approaches are being developed. Genetic counseling is very important in this devastating disease with high penetrance, particularly because of its broad spectrum and variability of manifestations.