Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome

Pavel Seeman; Vlasta Čejnová; Šárka Černá; Ladislava Rennerová; Marie Trková; Josef Kofer; Jana Laštůvková

doi:10.1111/cge.14175

Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome

Clin Genet. 2022 Sep;102(3):244-245. doi: 10.1111/cge.14175. Epub 2022 Jun 21.

Authors

Pavel Seeman^{1

2

3}, Vlasta Čejnová², Šárka Černá², Ladislava Rennerová⁴, Marie Trková³, Josef Kofer², Jana Laštůvková²

Affiliations

¹ Department of Child Neurology, 2nd Medical Faculty Charles University and University Hospital Motol Prague, Prague, Czech Republic.
² Department of Medical Genetics, Masaryk Hospital Ústí nad Labem, Usti nad Labem, Czech Republic.
³ Gennet s.r.o., Prague, Czech Republic.
⁴ Child Neurology, Usti nad Labem, Czech Republic.

PMID: 35726688
DOI: 10.1111/cge.14175

Abstract

Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of lower limbs.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion*
Chromosome Disorders* / genetics
Chromosomes, Human, Pair 1 / genetics
Czech Republic
Humans
Phenotype
Syndrome