Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay

Clin Dysmorphol. 2021 Oct 1;30(4):189-193. doi: 10.1097/MCD.0000000000000378.

Authors

Felicitas Maier^{1

2}, Michael Frühwald³, Uwe Heinrich¹, Mareike Schimmel³, Dagmar Wahl^{1

2}, Thomas Eggermann⁴

Affiliations

¹ Department of Clinical Genetics, MVZ Martinsried, Munich.
² Ambulance for Clinical Genetics, Praxis Dr. Wahl, Praxis für Humangenetik.
³ Department of Neuropediatrics, I. Klinik für Kinder und Jugendliche, Universitätsklinikum Augsburg, Augsburg.
⁴ Department for Imprinting Disorders, Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

PMID: 34117161
DOI: 10.1097/MCD.0000000000000378

No abstract available

MeSH terms

Abnormalities, Multiple* / genetics
Gene Duplication
Humans
Silver-Russell Syndrome* / diagnosis
Silver-Russell Syndrome* / genetics
Trisomy / genetics