A de novo 11p13 microduplication in a patient with some features invoking silver-russell syndrome

Molecular Syndromology

Volumn 5, Issue 1, 2014, Pages 11-18

  Palumbo, O ^a   Mattina, T ^b   Palumbo, P ^a,c   Carella, M ^a   Perrotta, C S ^d  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d Medical Genetics Unit   (Italy)

Author keywords

11p13 microduplication; Silver Russell syndrome; Single nucleotide polymorphism array analysis

Indexed keywords

UNTRANSLATED RNA;

ANIRIDIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CLINODACTYLY; DISEASE ASSOCIATION; DNA MICROARRAY; FACE DYSMORPHIA; GENETIC ASSOCIATION; GENETIC TRAIT; GENITAL MALFORMATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; MACROCEPHALY; MALE; MENTAL DEFICIENCY; NEPHROBLASTOMA; PHENOTYPE; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; BIRTH WEIGHT; BONE AGE; CATCH UP GROWTH; CHIN; CONVERGENT STRABISMUS; CRYPTORCHISM; EYELASH; FOREHEAD; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HYPOPLASIA; HYPOTROPHY; KARYOTYPING; MUSCLE HYPOTONIA; MUSCLE MASS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PHYSICAL EXAMINATION; PHYSIOTHERAPY; PRENATAL GROWTH; RESPIRATORY TRACT INFECTION; RETROGNATHIA; SMALL FOR DATE INFANT; VALGUS KNEE; WHITE MATTER;

EID: 84892180280     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000356459     Document Type: Article

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