Complex Phenotype Associated with 17q21.31 Microdeletion | Zendy

Halinna Dornelles-Wawruk | Zendy; Aline PicTaylor | Zendy; Carla Rosenberg | Zendy; Ana Cristina Victorino Krepischi | Zendy; H.P.N. Safatle | Zendy; Ilaria Ferrari | Zendy; Juliana F. Mazzeu | Zendy

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Complex Phenotype Associated with 17q21.31 Microdeletion

Author(s) -

Halinna Dornelles-Wawruk,

Aline PicTaylor,

Carla Rosenberg,

Ana Cristina Victorino Krepischi,

H.P.N. Safatle,

Ilaria Ferrari,

Juliana F. Mazzeu

Publication year - 2013

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000354120

Subject(s) - microdeletion syndrome , phenotype , medicine , genetics , cervical vertebrae , gene duplication , biology , gene , anatomy

We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient's clinical condition, together with the presence of 3 previously unreported symptoms, namely chronic anemia, cervical vertebrae arthrosis and vertebrae fusion, this case is an important addition to the existing knowledge about the 17q21.31 microdeletion syndrome.

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