Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)

American Journal of Medical Genetics

Volumn 131 A, Issue 1, 2004, Pages 94-98

  Torisu, Hiroyuki ^a,d   Yamamoto, Toshiyuki ^a,b   Fujiwaki, Takehisa ^c   Kadota, Mitsutaka ^a   Oshimura, Mitsuo ^a   Kurosawa, Kenji ^b   Akaboshi, Shinjiro ^a   Oka, Akira ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c MATSUE RED CROSS HOSPITAL   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

Author keywords

Angelman syndrome; Chromosomal abnormality; Chromosome 1; Monosomy 1p36

Indexed keywords

ANTERIOR FONTANEL; ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME TRANSLOCATION; ELECTROENCEPHALOGRAM; FEMALE; HAPPY PUPPET SYNDROME; HUMAN; HYPOPIGMENTATION; INFANT; KARYOTYPE; MONOSOMY; MONOSOMY 1P36; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE;

ABNORMALITIES, MULTIPLE; ANGELMAN SYNDROME; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MONOSOMY; TRANSLOCATION, GENETIC;

EID: 7244260509     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30413     Document Type: Article

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