Article
Are some multiple congenital anomalies with mental retardation (MCA/MR) the clinical expression of rare autosomal fragile sites?
Genetic counseling (Geneva, Switzerland) - 1 Jan 1991
Stoll C, Bolender C, Geraudel A, Finck S, Alembik Y, Dott B
Abstract excerpt
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 sh...
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Fragile Sites
- Chromosome Fragility
- Congenital Abnormalities
- Female
- Fetal Diseases
- Humans
- Infant, Newborn
- Infant, Newborn, Diseases
- Intellectual Disability
- Karyotyping
- Perinatology
- Phenotype
- Pregnancy