Three new cases with a supernumerary ring chromosome 1.
Clin Dysmorphol
; 14(4): 169-175, 2005 Oct.
Article
em En
| MEDLINE
| ID: mdl-16155417
ABSTRACT
We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][p11.1-->q21.1]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Cromossomos Humanos Par 1
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article