Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2873-2878

  Kuroda, Yukiko ^a   Ohashi, Ikuko ^a   Saito, Toshiyuki ^a   Nagai, Jun Ichi ^a   Ida, Kazumi ^a   Naruto, Takuya ^a   Wada, Takahito ^a   Kurosawa, Kenji ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

15q inversion; Angelman syndrome; Chromosomal rearrangement; Familial cases; UBE3A deletion

Indexed keywords

ANTICONVULSIVE AGENT; ORGANIC ANION TRANSPORTER D; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

AFEBRILE SEIZURE; ALLELE; ARTICLE; ATAXIC GAIT; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HAPPY PUPPET SYNDROME; HUMAN; KARYOTYPING; MALE; PAR1 GENE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SLCO3A1 GENE; SNORD115 GENE; UBE3A GENE; ANGELMAN SYNDROME; CHROMOSOMAL MAPPING; CHROMOSOME 15; FACIES; GENETICS; PHENOTYPE; SIBLING;

ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOME INVERSION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; UBIQUITIN-PROTEIN LIGASES;

EID: 84911433971     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36704     Document Type: Article

References (17)

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