Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? | Zendy

Brynn Levy | Zendy; David Tegay | Zendy; Peter Papenhausen | Zendy; James Tepperberg | Zendy; Odelia Nahum | Zendy; Tammy N. Tsuchida | Zendy; Beth A. Pletcher | Zendy; Leena AlaKokko | Zendy; Stuart G. Baker | Zendy; Barbara Frederick | Zendy; Kurt Hirschhorn | Zendy; Peter E. Warburton | Zendy; Alan Shanske | Zendy

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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Author(s) -

Brynn Levy,

David Tegay,

Peter Papenhausen,

James Tepperberg,

Odelia Nahum,

Tammy N. Tsuchida,

Beth A. Pletcher,

Leena AlaKokko,

Stuart G. Baker,

Barbara Frederick,

Kurt Hirschhorn,

Peter E. Warburton,

Alan Shanske

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.54

Subject(s) - tetrasomy , biology , genetics , aneuploidy , fluorescence in situ hybridization , phenocopy , phenotype , chromosome , small supernumerary marker chromosome , hypotonia , chromosome 7 (human) , gene

The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome.

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