Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)

Annales de Genetique

Volumn 47, Issue 3, 2004, Pages 267-273

  Varela, Monica C ^a   Lopes, Graziela M P ^a   Koiffmann, Celia P ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Absence of speech; Prader Willi syndrome; Unbalanced translocation

Indexed keywords

ABSENCE; ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME 4; DISOMY; EXON; GENE DELETION; GENE LOCATION; GENE TRANSLOCATION; HUMAN; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; METHYLATION; PHENOTYPE; PRADER WILLI SYNDROME; SCHOOL CHILD; SPEECH; TELOMERE;

CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 4; DNA METHYLATION; HUMANS; MALE; MICROSATELLITE REPEATS; PHENOTYPE; PRADER-WILLI SYNDROME; TELOMERE; TRANSLOCATION, GENETIC;

EID: 4344670879     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.01.003     Document Type: Article

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