RESUMO
There are currently two diagnostic options in cystic fibrosis. These involve assays for certain microvillar enzyme activities in amniotic fluid and recombinant deoxyribonucleic acid studies of markers linked to the cystic fibrosis gene on chromosome 7. The former are reduced in cystic fibrosis homozygotes; the latter make it possible to determine the particular pattern of chromosome 7 markers predictive of a cystic fibrosis homozygote in a specific family. However, neither test is appropriate for, applicable to, or informative in all families. The problems and potential of each approach are discussed.
Assuntos
Cromossomos Humanos Par 7/ultraestrutura , Ensaios Enzimáticos Clínicos , Fibrose Cística/diagnóstico , Marcadores Genéticos , Diagnóstico Pré-Natal , Adulto , Fosfatase Alcalina/análise , Líquido Amniótico/enzimologia , Fibrose Cística/genética , Feminino , Humanos , Recém-Nascido , Leucil Aminopeptidase/análise , Masculino , Microvilosidades/enzimologia , Linhagem , Polimorfismo de Fragmento de Restrição , gama-Glutamiltransferase/análiseRESUMO
Deletion of 7q32----qter is a well defined syndrome which usually arises de novo. The proband we report was the result of an uncomplicated 36 week first pregnancy of non-consanguineous Oriental parents. The male infant died shortly after birth. Chromosome studies of peripheral blood and umbilical cord revealed 46,XY,del(7), apparently (q32----qter). The parents' karyotypes were normal. The observed facial structural abnormalities and hydrocephalus rather than microcephaly are in sharp contrast to the clinically described syndrome. The lethal components, absence of suprarenal glands and hydranencephaly, suggest either an unknown confounding factor or a more proximal deletion with an alternative interpretation of 7q--(q23.1----q36.1) rather than the apparent breakpoint at 7q32.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 7 , Córtex Cerebral/anormalidades , Anormalidades do Olho , Ossos Faciais/anormalidades , Humanos , Recém-Nascido , Cariotipagem , Masculino , Monossomia , Crânio/anormalidadesRESUMO
A newborn oriental male with multiple malformations was found to have partial trisomy of 16p. The mother was found to be a translocation carrier: 46,XX,t(14;16) (q32;p12).
