First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa

Clin Dysmorphol. 2020 Jul;29(3):132-136. doi: 10.1097/MCD.0000000000000320.

Authors

Rohan Khazanchi¹, Anji T Yetman², Jennifer N Sanmann³, Lois J Starr³

Affiliations

¹ College of Medicine, University of Nebraska Medical Center.
² Division of Cardiology, Department of Pediatrics, Children's Hospital and Medical Center.
³ Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.

PMID: 32141891
DOI: 10.1097/MCD.0000000000000320

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
Chromosome Duplication / genetics
Chromosomes, Human, Pair 12 / genetics*
Connective Tissue
Connective Tissue Diseases / genetics
Cutis Laxa / genetics*
Humans
Male
Neurodevelopmental Disorders / genetics
Phenotype