Autori: D. Stoicanescu, C. Gug, M. Mihaescu, M. Puiu, S. Farcas, V. Belengeanu

Editorial: European Journal of Human Genetics, 2005.

Rezumat:

The results of medical genetics investigations in the population of the South-Western part of Romania in the last 5 years are presented. Individuals were referred to the Medical Genetics services from Timisoara by medical personnel or came without any referral. Familial pedigree analysis, clinical, paraclinical and cytogenetic investigation revealed:
– A genetic cause in the majority of investigated couples with sterility and infertility.
– Androgen insensitivity and congenital adrenal hyperplasia as the prevalent causes of intersexualities.
– Turner syndrome and its variants followed by Klinefelter syndrome as the cytogenetic causes of hypogonadism.
– Considering single-gene disorders, different types of osteocondrodysplasia were predominant, followed by storage disorders and cystic fibrosis. Due the severity of the phenotype and the psychological impact of the defects, rare disorders were diagnosed: Floating-Harbor and Ambras syndromes.
– As we expected, the main cause of mental retardation was Down syndrome, followed by single-gene disorders.
– Among non-syndromic birth defects, limb defects were most frequent.
– The majority of hematological malignancies were CML, followed by acute leukemias. Conventional cytogenetic analysis was used for monitoring these patients every 6 months.Conclusions: Couples with sterility and infertility represented the majority of investigated persons, their number increasing every year. The vast majority of patients came for cytogenetic analysis. An important percent of persons came without any referral, knowing about the genetic services from mass-media or web-sites.

Cuvinte cheie: genetic services, genetic counseling, genetic disorders

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