Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development

Ann Lab Med. 2018 Jan;38(1):77-79. doi: 10.3343/alm.2018.38.1.77.

Authors

Soon Sung Kwon¹, Jieun Kim², Saeam Shin³, Seung Tae Lee¹, Kyung A Lee¹, Jong Rak Choi¹

Affiliations

¹ Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
² Department of Laboratory Medicine, Soon Chun Hyang University College of Medicine, Seoul, Korea. [email protected].
³ Department of Laboratory Medicine, Hallym University College of Medicine, Seoul, Korea.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 20 / genetics*
Female
Gene Duplication
Humans
Jagged-1 Protein / genetics
Karyotype
Language Development Disorders / diagnosis*
Language Development Disorders / genetics
Psychomotor Disorders / diagnosis
Psychomotor Disorders / genetics
Trisomy

Substances

JAG1 protein, human
Jagged-1 Protein