Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation

Table 3

Microdeletion/microduplication syndromes in the 76 patients.

Syndromes	Isolated DD/ID	DD/ID with MCA	DD/ID with ASD	DD/ID with epilepsy	Total
Williams-Beuren syndrome	7	6	0	0	13
Angelman syndrome	4	1	0	2	7
Silver–Russell syndrome	0	3	0	0	3
15q11-q13 duplication syndrome	2	1	0	0	3
16p11.2 recurrent microdeletion	0	3	0	0	3
16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)	1	2	0	0	3
22q11 deletion syndrome (velocardiofacial/DiGeorge syndrome)	0	3	0	0	3
8p23.1 deletion syndrome	2	1	0	0	3
Prader–Willi syndrome	0	3	0	0	3
Smith–Magenis syndrome	0	2	1	0	3
22q13 deletion syndrome (Phelan–Mcdermid syndrome)	2	1	0	0	3
2q37 monosomy	0	1	1	0	2
Cri du chat syndrome (5p deletion)	0	2	0	0	2
Leri–Weill dyschondrosteosis (LWD): SHOX deletion	0	2	0	0	2
Potocki–Lupski syndrome (17p11.2 duplication syndrome)	1	0	1	0	2
Wolf–Hirschhorn syndrome	1	1	0	0	2
Xq28 (MECP2) duplication	2	0	0	0	2
Cat eye syndrome	0	1	0	0	1
12p13.33 microdeletion syndrome	0	1	0	0	1
15q24 recurrent microdeletion syndrome	1	0	0	0	1
15q26 overgrowth syndrome	0	1	0	0	1
16p11.2 microduplication syndrome	0	0	0	1	1
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)	0	0	0	1	1
17q21.31 recurrent microdeletion syndrome (Koolen–de Vries syndrome)	0	1	0	0	1
1q43-q44 deletion syndrome	1	0	0	0	1
22q11 duplication syndrome	1	0	0	0	1
ATR-16 syndrome	1	0	0	0	1
Lamb-Shaffer syndrome	1	0	0	0	1
Miller–Dieker syndrome	0	1	0	0	1
NF1-microdeletion syndrome	1	0	0	0	1
Pelizaeus–Merzbacher disease (carrier)	0	1	0	0	1
Potocki–Shaffer syndrome	1	0	0	0	1
Rett syndrome	0	1	0	0	1
Steroid sulphatase deficiency (STS)	0	0	0	1	1
Xp11.22-linked intellectual disability	0	1	0	0	1
Total	29	40	3	5	77