Skip to main content

Table 5 Complex rearrangements detected in the current study

From: From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Case Cohort Type Chromosome(s) Phenotype
RD_P22 Cohort 1 DEL-NML-DEL 5 NDD
RD_P54 Cohort 1 DEL-INV-DEL 17 NDD
RD_P07 Cohort 1 DEL-NML-DEL-NML-DUP 1 NDD+
RD_P05 Cohort 1 DEL-DUP-DEL 2 Internal malformations
RD_P26 Cohort 1 DEL-INV-DEL 21 NDD+
RD_P105 Cohort 1 DUP-NML-DUP 7 NDD
RD_P106 Cohort 1 DUP-NML-DUP 14 NDD
RD_P77 Cohort 1 DEL-T 4, 7 NDD+
RD_P393 Cohort 2 DEL-INV-DEL 2 Epilepsy
RD_P405 Cohort 3 DUP-INS 3, 13 Growth retardation
RD_P406 Cohort 3 DUP-INS 4, 2 NDD, microcephaly
RD_P414 Cohort 3 Ring chromosome 18 NDD
  1. DEL deletion, NML normal, INV inversion, T translocation, INS insertion, NDD neurodevelopemental disorder, NDD+ syndromic NDD
Back to article page

Genome Medicine

ISSN: 1756-994X

Contact us