Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.

Niida, Yo; Sato, Hitoshi; Ozaki, Mamoru; Itoh, Masatsune; Ikeno, Kanju; Takase, Etsuko

Niida, Yo; Sato, Hitoshi; Ozaki, Mamoru; Itoh, Masatsune; Ikeno, Kanju; Takase, Etsuko.

Affiliation

Niida Y; Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan.

Cytogenet Genome Res ; 149(4): 247-257, 2016.

Article in En | MEDLINE | ID: mdl-27771696

Subject(s)

Angelman Syndrome/classification; Angelman Syndrome/genetics; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Human, Pair 13/genetics; Chromosomes, Human, Pair 15/genetics; Chromosomes, Human, X/genetics; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Maternal Inheritance/genetics; Oligonucleotide Array Sequence Analysis; Paternal Inheritance/genetics; Phenotype; Translocation, Genetic/genetics; Trisomy/genetics; Uniparental Disomy/genetics

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Database: MEDLINE Main subject: Chromosome Aberrations / Angelman Syndrome Limits: Female / Humans / Infant / Male Language: En Year: 2016 Type: Article

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PubMed Links

Database: MEDLINE Main subject: Chromosome Aberrations / Angelman Syndrome Limits: Female / Humans / Infant / Male Language: En Year: 2016 Type: Article