Table 3 Conclusive CNV and STR diagnoses.

From: The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Patient

Gender

Concordance

Gene

Genomic Mutation (GRCh37)

Size

Inheritance

33

female

GS+

CHD2

15q26.1(93494184-93499518)x1

5 kb

de novo

47

female

GS+ 

AHDC1

1p36.11(27833526-27869757)x1

36 kb

de novo

8

female

yesa

CSNK2A1

20p13(486287-1783151)x1

1.3 Mb

de novo

PDYN

20p13(1963481-1995077)x3

32 kb

de novo

25

male

yes

FMR1

X:146993568_146993628CGG[94]

94 repeat units

anticipation

117

male

yes

Multiple

16p11.2(29591089-30199431)3x

0.6 Mb

paternalb

142

male

yes

Multiple

16p13.2(8165983-9074579)1x

0.9 Mb

de novo

  1. aThe pathogenic 20p13 deletion was found by both ES and GS. GS, however, revealed an additional 20p13 duplication.
  2. bRecurrent 16p11.2 microduplication syndrome (OMIM 614671) with an estimated penetrance of 11.2% [42].
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