Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome

European Journal of Human Genetics

Volumn 12, Issue 5, 2004, Pages 411-414

  Nazarenko, Sergey ^a   Sazhenova, Elena ^a   Baumer, Alessandra ^b   Schinzel, Albert ^b  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Chromosome 15; Heterodisomy; Imprinting; Maternal segmental uniparental disomy; Prader Willi syndrome

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHROMATID; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CONVERGENT STRABISMUS; CRYPTORCHISM; FACE MALFORMATION; FEEDING DISORDER; FINGER MALFORMATION; FOOT MALFORMATION; HAND MALFORMATION; HUMAN; HUMAN CELL; HYPERPHAGIA; HYPOREFLEXIA; INFANT; INFANT DISEASE; MALE; MEIOSIS; MICROSATELLITE MARKER; MICROSTOMIA; MITOTIC RECOMBINATION; MUSCLE HYPOTONIA; OBESITY; PENIS DISEASE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCROTUM DISORDER; SPEECH DISORDER; TRISOMY; UNIPARENTAL DISOMY; ZYGOTE;

ADULT; AUTOANTIGENS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICROSATELLITE REPEATS; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PRADER-WILLI SYNDROME; RIBONUCLEOPROTEINS, SMALL NUCLEAR; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS; UNIPARENTAL DISOMY;

EID: 2442696542     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201168     Document Type: Article

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