Fanconi's anaemia: case history of six Spanish families.
We report on the results obtained in 6 Fanconi's anaemia families (FA) (parents, brothers and sisters) affected by at least one of the symptoms usually observed in FA. The 6 FA families were studied from 1974 to 1990, all having located in Madrid (Spain) but with different ethnic origin: 3 families are of Spanish descent and the other 3 are gipsy families. All showed characteristics of the disease, including malformations, stunted growth, microcephaly, skin hyperpigmentation, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (SOD) activity. (Ref. 17.)
Casado
A
A
Oddelenie patofyziológie a molekulárnej genetiky cloveka, Výskumný ústav biológie (CSIC) v Madride, Spain.
De La Torre
R
R
Cantalejo
A
A
Ramos
M
M
Carrascosa
D
D
López-Fernandez
E
E
D005199:Fanconi Anemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D006178:Romani People; D013030:Spain