Article
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.
Journal of medical genetics - 1 Jul 1992
Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J
Abstract excerpt
A 2 year old girl presented with developmental delay and subtle dysmorphic features suggestive of Wolf-Hirschhorn syndrome (WHS). High resolution chromosome analysis was normal in the child and both parents. Molecular analysis indicated that the child had not inherited a maternal allele of probes...
Topics
- Abnormalities, Multiple
- Alleles
- Child, Preschool
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 4
- Face
- Female
- Fluorescence
- Humans
- Intellectual Disability
- Nucleic Acid Hybridization
- Pedigree
- Seizures
- Syndrome
- Translocation, Genetic