Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.

Altiner, Sule; Yürür Kutlay, Nüket; Ilgin Ruhi, Hatice

Altiner, Sule; Yürür Kutlay, Nüket; Ilgin Ruhi, Hatice.

Cytogenet Genome Res ; 160(1): 11-17, 2020.

Article in En | MEDLINE | ID: mdl-31982875

Subject(s)

Chromosomes, Human, Pair 8/genetics; Chromosomes, Human, Pair 8/ultrastructure; Neutropenia/genetics; Oral Ulcer/genetics; Stomatitis, Aphthous/genetics; Child, Preschool; Chromosome Aberrations; Chromosome Disorders/genetics; Cytogenetics; Female; Genetic Markers; Genotype; Humans; Karyotyping; Lymphocytes/metabolism; Metaphase; Mosaicism; Neutropenia/complications; Neutropenia/diagnosis; Oligonucleotide Array Sequence Analysis; Oral Ulcer/complications; Oral Ulcer/diagnosis; Phenotype; Stomatitis, Aphthous/complications; Stomatitis, Aphthous/diagnosis

Key words

Chromosome 8; Chromothripsis; KAT6A; Small supernumerary marker chromosome (sSMC); Trisomy rescue

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Stomatitis, Aphthous / Chromosomes, Human, Pair 8 / Oral Ulcer / Neutropenia Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Cytogenet Genome Res Journal subject: GENETICA Year: 2020 Type: Article

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