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

Seeman, Pavel; Cejnová, Vlasta; Cerná, Sárka; Rennerová, Ladislava; Trková, Marie; Kofer, Josef; Lastuvková, Jana

Seeman, Pavel; Cejnová, Vlasta; Cerná, Sárka; Rennerová, Ladislava; Trková, Marie; Kofer, Josef; Lastuvková, Jana.

Afiliação

Seeman P; Department of Child Neurology, 2nd Medical Faculty Charles University and University Hospital Motol Prague, Prague, Czech Republic.
Cejnová V; Department of Medical Genetics, Masaryk Hospital Ústí nad Labem, Usti nad Labem, Czech Republic.
Cerná S; Gennet s.r.o., Prague, Czech Republic.
Rennerová L; Department of Medical Genetics, Masaryk Hospital Ústí nad Labem, Usti nad Labem, Czech Republic.
Trková M; Department of Medical Genetics, Masaryk Hospital Ústí nad Labem, Usti nad Labem, Czech Republic.
Kofer J; Child Neurology, Usti nad Labem, Czech Republic.
Lastuvková J; Gennet s.r.o., Prague, Czech Republic.

Clin Genet ; 102(3): 244-245, 2022 09.

Article em En | MEDLINE | ID: mdl-35726688

ABSTRACT

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.

Assuntos

Deleção Cromossômica; Transtornos Cromossômicos; Transtornos Cromossômicos/genética; Cromossomos Humanos Par 1/genética; República Tcheca; Humanos; Fenótipo; Síndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Transtornos Cromossômicos Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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