Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family

Pediatric and Developmental Pathology

Volumn 13, Issue 4, 2010, Pages 326-330

  Cardarelli, Laura ^a   Sparago, Angela ^b,c   De Crescenzo, Agostina ^c   Nalesso, Elisa ^a,d   Zavan, Barbara ^d   Cubellis, Maria Vittoria ^e   Selicorni, Angelo ^f   Cavicchioli, Paola ^g   Pozzan, Giovanni Battista ^g   Petrella, Marilena ^g   Riccio, Andrea ^b,c  

^a Laboratorio Analisi CITOTEST   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f IRCCS   (Italy)

^g UO Pediatria Mestre Venezia ^*  (Italy)

Author keywords

Array CGH; Beckwith Wiedemann syndrome; DNA methylation; Genomic imprinting; Silver Russell syndrome

Indexed keywords

BARBITURIC ACID; GROWTH HORMONE; LEVOTHYROXINE SODIUM; HUMAN GROWTH HORMONE;

ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 11P; CHROMOSOME DUPLICATION; CORSET; DNA METHYLATION; FACE MALFORMATION; FEMALE; FOREHEAD; GENETIC ANALYSIS; GENETIC ASSOCIATION; GESTATIONAL AGE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XX; LOW SET EAR; MOLECULAR DIAGNOSIS; MOTHER; MUSCLE HYPOTONIA; NEVUS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCOLIOSIS; SEIZURE; SILVER RUSSELL SYNDROME; THYROID ADENOMA; THYROIDECTOMY; TONGUE DISEASE; TRISOMY; CHROMOSOME 11; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DUPLICATION; GENETICS; GENOME IMPRINTING; PATHOLOGY; UNIPARENTAL DISOMY;

ADULT; BECKWITH-WIEDEMANN SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; DNA METHYLATION; FEMALE; GENE DUPLICATION; GENOMIC IMPRINTING; HUMAN GROWTH HORMONE; HUMANS; MOTHERS; PHENOTYPE; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 79952055492     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/09-07-0686-CR.1     Document Type: Article

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