Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum | Zendy

Fatma Abdelhedi | Zendy; Laïla El Khattabi | Zendy; Laurence Cuisset | Zendy; Vassilis Tsatsaris | Zendy; Géraldine Viot | Zendy; Luc Druart | Zendy; Aziza Lebbar | Zendy; JeanMichel Dupont | Zendy

Open Access

Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum

Author(s) -

Fatma Abdelhedi,

Laïla El Khattabi,

Laurence Cuisset,

Vassilis Tsatsaris,

Géraldine Viot,

Luc Druart,

Aziza Lebbar,

JeanMichel Dupont

Publication year - 2014

Publication title -

american journal of clinical pathology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.859

H-Index - 128

eISSN - 1943-7722

pISSN - 0002-9173

DOI - 10.1309/ajcpblmprxku1jue

Subject(s) - uniparental disomy , trisomy , hypotonia , dysplasia , pathology , hypoplasia , cerebellar hypoplasia (non human) , cerebellum , biology , genetics , medicine , karyotype , anatomy , chromosome , endocrinology , gene

We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m].

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