Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with silver-russell features

Journal of Pediatrics

Volumn 161, Issue 5, 2012, Pages

  Spengler, Sabrina ^a   Begemann, Matthias ^a   Ortiz Brüchle, Nadina ^a   Baudis, Michael ^b   Denecke, Bernd ^a   Kroisel, Peter Michael ^c   Oehl Jaschkowitz, Barbara ^d   Schulze, Bernd ^e   Raabe Meyer, Gisela ^e   Spaich, Christiane ^f   Blümel, Peter ^g   Jauch, Anna ^h   Moog, Ute ^h   Zerres, Klaus ^a   Eggermann, Thomas ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Institute of Human Genetics   (Austria)

^d Institut für Humangenetik   (Germany)

^e Institut für Humangenetik   (Germany)

^f Institut fur Genetik   (Germany)

^g G v Preyer Kinderspital   (Austria)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

ADHD; Attention deficit hyperactivity disorder; CNV; Copy number variation; FISH; Fluorescence in situ hybridization; ICR1; IGF; Imprinting control region 1; Insulin like growth factor; Maternal uniparental disomy of chromosome 7; PCR; Polymerase chain reaction; Reference Sequence; RefSeq; Silver Russell syndrome; SRS; upd(7)mat

Indexed keywords

ARTICLE; CHROMOSOME DELETION; CHROMOSOME DELETION 15Q26; CHROMOSOME DELETION 17P13; CHROMOSOME DELETION 1Q21; CHROMOSOME DELETION 22Q11; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 22Q13; CHROMOSOME DUPLICATION XQ25Q27; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC TEST; FEMALE; GENETIC VARIABILITY; GROWTH RETARDATION; HUMAN; KARYOTYPING; MALE; MOLECULAR DIAGNOSIS; PHENOTYPE; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84867889844     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2012.04.045     Document Type: Article

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