1.
J Med Genet
; 13(5): 366-70, 1976 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-1003448
RESUMO
A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.
Assuntos
Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Inversão Cromossômica , Cromossomos Humanos 16-18 , Trissomia , Pré-Escolar , Dermatoglifia , Feminino , Humanos , Lactente , Cariotipagem , Linhagem
2.
Rev Farm Bioquim Univ Sao Paulo
; 11(2): 196-208, 1973.
Artigo
em Português
| MEDLINE
| ID: mdl-4373797