PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl

Clinical Genetics

Volumn 83, Issue 2, 2013, Pages 169-174

  Fonseca, A C S ^a   Bonaldi, A ^a   Costa, S S ^a   Freitas, M R ^b   Kok, F ^b   Vianna Morgante, A M ^a  

^a Instituto de Biociencias   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Apparently balanced translocation; Duplication at translocation breakpoints; Merzbacher disease; Pelizaeus; PLP1 duplication; X autosomal translocation

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHOREOATHETOSIS; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; SEIZURE;

CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; TRANSLOCATION, GENETIC;

EID: 84872050777     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01854.x     Document Type: Article

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