Subtelomeric trisomy 21q: A new benign chromosomal variant

European Journal of Medical Genetics

Volumn 50, Issue 1, 2007, Pages 54-59

  Bonaglia, Maria Clara ^a   Marelli, Susan ^a   Gottardi, Giulietta ^a   Zucca, Claudio ^a   Pramparo, Tiziano ^b   Giorda, Roberto ^a   Grasso, Rita ^a   Borgatti, Renato ^a   Zuffardi, Orsetta ^b,c  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

21q trisomy; Benign subtelomeric variant; Translocation; UBE3A

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 19; CHROMOSOME 21Q; CHROMOSOME POLYMORPHISM; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHROMOSOME VARIANT; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HAPPY PUPPET SYNDROME; HUMAN; PHENOTYPE; PRESCHOOL CHILD; TELOMERE; TRISOMY 21; TRISOMY 21Q; UBE3A GENE;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 19; DOWN SYNDROME; FEMALE; HUMANS; TELOMERE; TRANSLOCATION, GENETIC; UBIQUITIN-PROTEIN LIGASES; VARIATION (GENETICS);

EID: 33846252294     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.07.001     Document Type: Article

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