Article
Clinical and molecular analyses of deletion 3p25-pter syndrome.
American journal of medical genetics - 1 Jul 1993
Mowrey P N, Chorney M J, Venditti C P, Latif F, Modi W S, Lerman M I, Zbar B, Robins D B, Rogan P K, Ladda R L
Abstract excerpt
Hemizygous deletion of 3p25-pter is associated with a phenotype of profound growth failure, microcephaly, characteristic facial changes, and mental retardation. Since the severity may be quite variable, we have studied 3 cases of del 3p25-pter to define the clinical manifestations and the critical chromosome region for phenotypic expression. The patient we now report died at age 6 months and provided an...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 3
- Face
- Failure to Thrive
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Intellectual Disability
- Karyotyping