De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.

Schramm, Charlotte

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. [electronic resource] - American journal of medical genetics. Part A Feb 2011 - 445-9 p. digital

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

1552-4833

10.1002/ajmg.a.33820 doi


Anorectal Malformations
Anus, Imperforate--genetics
Child
Chromosome Duplication--genetics
Chromosomes, Human, Pair 18--genetics
Female
Genotype
Humans
Karyotyping
Male
Mutation--genetics
Phenotype
Polymorphism, Single Nucleotide--genetics