1.
Clin Genet
; 10(4): 202-7, 1976 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-975595
RESUMO
A family demonstrating short arm deletion of the X chromosome as a consequence of X-16 balanced translocation in the mother is reported. The two Xp- sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X-16 interchange. Literature data of 37 additional cases of verified X translocations are discussed.
Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos 16-18 , Cromossomos Sexuais , Translocação Genética , Síndrome de Turner/genética , Adolescente , Feminino , Humanos , Linhagem
2.
Birth Defects Orig Artic Ser
; 12(5): 137-8, 1976.
Artigo
em Inglês
| MEDLINE
| ID: mdl-953214