Article
A new deletion of 18q23 with few typical features of the 18q- syndrome.
Journal of medical genetics - 1 Mar 1996
Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V
Abstract excerpt
We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP analysis were performed to characterise the ex...
Topics
- Abnormalities, Multiple
- Alleles
- Child, Preschool
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 18
- DNA, Satellite
- Face
- Female
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Polymorphism, Restriction Fragment Length
- Syndrome