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Article

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.

Clinical genetics - 1 Jun 2020

Aagaard Nolting Line, Brasch-Andersen Charlotte, Cox Helen, Kanani Farah, Parker Michael, Fry Andrew E, Loddo Sara, Novelli Antonio, Dentici Maria Lisa, Joss Shelagh, Jørgensen Joan P, Fagerberg Christina R

Abstract excerpt

Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap comprising 1 Mb at 1p36.13-1p36.12 (chr1:19077793-20081292 (GRCh37/hg19)) defining a new contiguous...

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PMID: 32170730
DOI: 10.1111/cge.13739

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