VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5

Am J Med Genet A. 2018 Feb;176(2):502-504. doi: 10.1002/ajmg.a.38579. Epub 2017 Dec 18.

Authors

Samuel Hwang¹, Mary Katharine Rudd², Lisa Finch³, Suzanne E Peterson⁴, Raj P Kapur⁵

Affiliations

¹ Department of Pathology, Oregon Health & Science University, Portland, Oregon.
² Center for Molecular Biology and Pathology, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina.
³ Seattle Ultrasound, Obstetrix Medical Group, Seattle, Washington.
⁴ Maternal Fetal Medicine, Swedish Medical Center, Seattle, Washington.
⁵ Department of Pathology, University of Washington and Seattle Children's Hospital, Seattle, Washington.

PMID: 29250894
DOI: 10.1002/ajmg.a.38579

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Aborted Fetus / diagnostic imaging
Aborted Fetus / physiopathology
Anal Canal / abnormalities*
Anal Canal / physiopathology
Chromosomes, Human, Pair 5 / genetics
Cri-du-Chat Syndrome / genetics*
Cri-du-Chat Syndrome / physiopathology
Esophagus / abnormalities*
Esophagus / physiopathology
Female
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / physiopathology
Humans
Kidney / abnormalities*
Kidney / physiopathology
Limb Deformities, Congenital / genetics*
Limb Deformities, Congenital / physiopathology
Mosaicism
Phenotype
Pregnancy
Spine / abnormalities*
Spine / physiopathology
Trachea / abnormalities*
Trachea / physiopathology
Trisomy / genetics*
Trisomy / physiopathology
Uniparental Disomy / genetics*
Uniparental Disomy / physiopathology

Supplementary concepts

Chromosome 5, uniparental disomy
VACTERL association