Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.
Genet Couns
; 17(3): 349-57, 2006.
Article
en En
| MEDLINE
| ID: mdl-17100204
ABSTRACT
Pure partial duplication or triplication of the proximal part of chromosome 14 has been reported in only 4 patients. Other individuals with a duplication or triplication of this region have additional chromosome imbalances. We present a new case with a supernumerary marker chromosome in all blood cells and in 35% of the cells an additional smaller marker chromosome. Both markers appeared to be derived from chromosome 14 (del(14)(q21.2) in all cells and del(14)(q11.2) in 35% of the cells). This results in a partial duplication of the proximal region of chromosome 14, combined with a mosaic partial triplication of a smaller segment of the same region. In this paper, we compare the clinical features of this case to those of cases from the literature. Although most of the patients from literature were unbalanced translocation carriers, their clinical features were comparable, except from renal abnormalities.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 14
/
Duplicación de Gen
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Países Bajos