TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Schluth-Bolard, Caroline

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7. [electronic resource] - European journal of medical genetics - 156-64 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1769-7212

10.1016/j.ejmg.2007.12.003 doi


Acrocephalosyndactylia--genetics
Adult
Child, Preschool
Chromosomes, Human, Pair 2--genetics
Chromosomes, Human, Pair 7--genetics
Female
Gene Deletion
Gene Rearrangement
Humans
Infant, Newborn
Male
Nuclear Proteins--genetics
Nucleic Acid Hybridization
Oligonucleotide Array Sequence Analysis
Phenotype
Twist-Related Protein 1--genetics