Neonatal silver-russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum

American Journal of Clinical Pathology

Volumn 142, Issue 2, 2014, Pages 248-253

  Abdelhedi, Fatma ^a   El Khattabi, Laila ^a   Cuisset, Laurence ^a,b   Tsatsaris, Vassilis ^a,b   Viot, Geraldine ^a,b   Druart, Luc ^c   Lebbar, Aziza ^a,b   Dupont, Jean Michel ^a,b  

^a Institut Cochin   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Biomnis   (France)

Author keywords

Cerebellar dysplasia; Maternal heterodisomy 7; Prenatal trisomy 7; Silver Russell syndrome

Indexed keywords

ADULT; AMNION CELL; ARTICLE; CASE REPORT; CEREBELLAR DYSPLASIA; CEREBELLUM DISEASE; CEREBELLUM HYPOPLASIA; CHOREOATHETOSIS; CHROMOSOME ANALYSIS; DISEASE ASSOCIATION; FACE DYSMORPHIA; FEMALE; HUMAN; MEDICAL EXAMINATION; MOSAICISM; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; PSYCHOMOTOR RETARDATION; SILVER RUSSELL SYNDROME; TRISOMY 7; UNIPARENTAL DISOMY; BRAIN; CEREBELLUM; CHROMOSOME 7; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; GENETICS; MATERNAL HETERODISOMY 7; NERVOUS SYSTEM MALFORMATION; PATHOLOGY; PRENATAL TRISOMY 7; TRISOMY;

CEREBELLAR DYSPLASIA; MATERNAL HETERODISOMY 7; PRENATAL TRISOMY 7; SILVER-RUSSELL SYNDROME;

ADULT; BRAIN; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; MOSAICISM; NERVOUS SYSTEM MALFORMATIONS; SILVER-RUSSELL SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

EID: 84907247416     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPBLMPRXKU1JUE     Document Type: Article

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