Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.

Woodward, Karen

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