Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing

Am J Med Genet A. 2016 Dec;170(12):3359. doi: 10.1002/ajmg.a.37869. Epub 2016 Sep 8.

Authors

Yong Shi¹, Radhika Dhamija², Catherine Wren¹, Xiangling Wang³, Dusica Babovic-Vuksanovic³, Elaine Spector¹

Affiliations

¹ Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine/Molecular Genetics Laboratory, Aurora, Colorado.
² Departments of Neurology and Pediatrics, University of Virginia, Charlottesville, Virginia.
³ Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

PMID: 27604603
DOI: 10.1002/ajmg.a.37869

No abstract available

Publication types

Letter

MeSH terms

Cleft Lip / genetics*
Cleft Palate / genetics*
Female
Fingers / abnormalities*
Hand Deformities, Congenital / genetics*
High-Throughput Nucleotide Sequencing / methods*
Holoprosencephaly / genetics*
Humans
Intellectual Disability / genetics*
Male
Mosaicism*

Supplementary concepts

Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate