1.
J Med Genet
; 12(4): 423-5, 1975 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-1219126
RESUMO
A 19-year-old Jordanian girl, born to first-cousin parents, has most features of Bloom's syndrome but is tall and has secondary amenorrhoea. Blood and skin cultures revealed a normal diploid female complement but about one-quarter of the cells show chromosome or chromatid gaps, breaks and rearrangements. These abnormalities were localized after trypsin banding and having been found non-randomly distributed along the chromosomes.
Assuntos
Anormalidades Múltiplas/genética , Dermatoses Faciais/genética , Telangiectasia/genética , Adulto , Aberrações Cromossômicas , Feminino , Humanos , Síndrome
2.
J Obstet Gynaecol Br Commonw
; 80(8): 735-44, 1973 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-4725952