Table 1 Summary of Molecular and Clinical Findings in Patient 1 and Patient 2 compared to other cases with 15q13.3 deletion syndrome reviewed in Lowther et al. 2015

 Intellectual Disabilities

Present

_

59%

 High IQ

_

Present

Not reported

 Autisistic Features

_

Suspected

10.9%

 Speech

Delayed

Delayed

15.9%

 Hyperactivity

Present

_

4.5%

 Congenital Malformation

_

Present

2.4%

 Dysmorphic features

Present

Present

Not indicated

 FISH Analysis

N/A

 GTW Banding

N/A

 Microarrays

CytoHD

SNP Array 6.0

N/A

 Double Hit

N/A

 1st Deletion BP

29,215,009–30,370,019(hg19; 1155 kbp)

30,450,356–30,779,579 (hg19; 329 kbp)

N/A

 2nd Deletion BP

31,444,122–32,446,830 (hg19;1003 kbp)

32,561,665–32,876,972 (hg19; 315 kbp)

N/A

 1st Deletion Genes

APBA2, NDNL2, TJP1, FAM189A1

GOLGA8T, CHRFAM7A

N/A

 2nd Deletion Genes

TRPM1, KLF13, OTUD7A, CHRNA7

CHRNA7, GOLGA8O

N/A