A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas, Érika L

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. [electronic resource] - European journal of medical genetics Nov 2012 - 660-5 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2012.06.015 doi


Abnormalities, Multiple--genetics
Adult
Child
Chromosome Deletion
Chromosomes, Human, Pair 2--genetics
Craniofacial Abnormalities
Facies
Female
Haplotypes
Humans
Hypertelorism--diagnosis
Mosaicism
Muscular Atrophy--genetics
Pedigree
Phenotype