De novo 5q35.5 duplication with clinical presentation of Sotos syndrome-Reference-Cited by-同舟云学术

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

Published:2011-08-16 Issue:10 Volume:155 Page:2501-2507
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kasnauskiene Jurate,Cimbalistiene Loreta,Ciuladaite Zivile,Preiksaitiene Egle,Kučinskienė Zita Aušrelė,Hettinger Joe A.,Sismani Carolina,Patsalis Philippos C.,Kučinskas Vaidutis

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34179/fullpdf

Reference19 articles.

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3. Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities;Brunetti-Pierri;Nat Genet,2008

4. DNA deletion associated with hereditary neuropathy with liability to pressure palsies;Chance;Cell,1993

5. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q;Chen;Am J Med Genet Part A,2006

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3. Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality;Medicine;2019-12

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