Table 3 The results of molecular karyotyping for all three patients with CNVs detected in chromosomal region 9p24.3 encompassing the first exon of DOCK8.

From: Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders

Patient

Nomenclature according to ISCN

Size [bp]

Inheritance

Patient 1

arr[GRCh37] 9p24.3(204193_271316) × 3

67,124

/

Patient 2

arr[GRCh37] 9p24.3(204221_266075) × 1

61,855

mat

Patient 3

arr[GRCh37] 9p24.3(204221_271287) × 3

67,067

dn

  1. ISCN – International System for Human Cytogenetic Nomenclature, bp- base pare, mat – maternal, dn – de novo.
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