Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter).
Clin Genet
; 51(4): 264-7, 1997 Apr.
Article
em En
| MEDLINE
| ID: mdl-9184250
ABSTRACT
Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient showed some clinical features of deletion 4q and a pointed 5th finger, a characteristic finding in deletion 4q31-->qter. The second patient had mild dysmorphism associated with growth retardation.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Cromossomos Humanos Par 4
/
Deleção Cromossômica
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article