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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

From: First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

  Patient 1 Patient 2 Lowther et al. 2015
Clinical features  
 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
Molecular Analysis  
 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