Are some multiple congenital anomalies with mental retardation (MCA/MR) the clinical expression of rare autosomal fragile sites?
Genet Couns
; 2(4): 211-5, 1991.
Article
en En
| MEDLINE
| ID: mdl-1799418
A boy with MCA/MR and a fragile site (FS) at 8q22 opens the discussion of a possible association between a rare autosomal FS and an abnormal phenotype. The child was born after prenatal diagnosis of ureterohydronephrosis. He had facial dysmorphia and mental retardation (IQ = 40). The karyotype showed 8q22 FS in 12% of the cells obtained after addition of FUdR to the culture medium. No other etiologic factor was shown to be responsible for the MCA/MR syndrome. Several authors have reported a variety of neurodevelopmental abnormalities and mental retardation in individuals with rare FS expressed on chromosomes 2, 9, 10, 16 and 19. If rare FS predispose to phenotypic abnormalities what are the mechanisms?
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Congénitas
/
Aberraciones Cromosómicas
/
Fragilidad Cromosómica
/
Enfermedades Fetales
/
Discapacidad Intelectual
Tipo de estudio:
Qualitative_research
Límite:
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
1991
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Suiza