Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. [electronic resource]
- American journal of medical genetics. Part A Apr 2003
- 15-24 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4825
10.1002/ajmg.a.10103 doi
Chorionic Villi Sampling Chromosome Aberrations Chromosome Mapping Chromosomes, Human, X Female Heterozygote Humans In Situ Hybridization, Fluorescence Male Membrane Proteins Mosaicism--genetics Myelin Proteolipid Protein--genetics Pedigree Pelizaeus-Merzbacher Disease--diagnosis Sequence Deletion