Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features

Author:

Petriczko Elzbieta,Biczysko-Mokosa Agnieszka,Bogdanowicz Joanna,Constantinou Maria,Zdziennicka Elzbieta,Horodnicka-Jozwa Anita,Barg Ewa,Gawlik-Zawislak Sylwia,Sulek-Piatkowska Anna,Dawid Grazyna,Walczak Mieczysław,Pesz Karolina,Kedzia Andrzej,Zajaczek Stanislaw

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Trisomy 4q31 → qter due to a maternal 4/8 translocation;Anneren;Hereditas,1983

2. Duplication (4)(q28q35.2) de novo in a new born;Cernakova;Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub,2006

3. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus;Dudding;Neurology,2004

4. Partial 4q trisomy. Apropos of 3 cases;Dutrillaux;Ann Genet,1975

5. Large duplication 4q25-q34 with mild clinical effect;Elghezal;Ann Genet,2004

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