Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities

Subjects

Subjects :

Heart Defects, Congenital
Delayed puberty
Chromosomes, Artificial, Bacterial
medicine.medical_specialty
Heart malformation
Biology
Bioinformatics
Young Adult
Gene mapping
Gene duplication
Genetics
medicine
Humans
Learning disorders
Young adult
Child
In Situ Hybridization, Fluorescence
Genetics (clinical)
Chromosome Aberrations
Puberty, Delayed
Learning Disabilities
Cytogenetics
Learning disability
Female
medicine.symptom
Chromosomes, Human, Pair 8

Details

ISSN :

15524833 and 15524825

Database :

OpenAIRE

Journal :

American Journal of Medical Genetics Part A

Accession number :

edsair.doi.dedup.....3e8e027a88bee2b88b480b401a8716d6

Full Text :

https://doi.org/10.1002/ajmg.a.32522