Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation

Neuroendocrinology Letters

Volumn 27, Issue 5, 2006, Pages 579-585

  Calounova, Gabriela ^a   Novotna, Drahuse ^a   Simandlova, Martina ^a   Havlovicova, Marketa ^a   Zumrová, Alena ^a   Kocarek, Eduard ^a   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Balanced translocation; Chromosome 15; DNA methylation; Genomic imprinting; Maternal uniparental disomy; Prader Willi syndrome

Indexed keywords

SMALL NUCLEAR RIBONUCLEOPROTEIN;

ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 8; COGNITIVE DEFECT; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENOME IMPRINTING; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPOPIGMENTATION; MICROSATELLITE MARKER; MUSCLE HYPOTONIA; PRADER WILLI SYNDROME; PRESCHOOL CHILD; RECIPROCAL CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

EID: 33846015065     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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