Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity

European Journal of Medical Genetics

Volumn 60, Issue 9, 2017, Pages 445-450

  Knijnenburg, Jeroen ^a   Uytdewilligen, Madiek E W ^a   van Hassel, Daniella A C M ^a   Oostenbrink, Rianne ^b   Eussen, Bert H J ^a   de Klein, Annelies ^a   Brooks, Alice S ^a   van Zutven, Laura J C M ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

8p23.1; BIR; inv dup del; Olfactory receptor gene cluster; Segmental UPD

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 8; DOUBLE STRANDED DNA BREAK; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RECOMBINATION; GENOMIC INSTABILITY; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; OBESITY; SCHOOL CHILD; SEGMENTAL DUPLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE; UNIPARENTAL DISOMY; CHROMOSOME 8; CHROMOSOME DISORDER; GENETICS; SYNDROME;

CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 8; HUMANS; INTELLECTUAL DISABILITY; MALE; OBESITY; SYNDROME; TELOMERE;

EID: 85020388091     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2017.06.003     Document Type: Article

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