Table 1.

Genomic imbalances detected using array-CGH technique in a series of 41 patients presenting 22q11.2 deletion phenotype and negative results of karyotype and FISH for 22q11.2 locus studies

Case ID	Results	Size [Mb]	Known recurrent genomic disorder	Key genes for the observed phenotype	Overlapping clinical features between the detected genomic disorder and 22q11.2 deletion observed in the patient	Distinct clinical features between the detected genomic disorder and 22q11.2 deletion observed in the patient
29	arr[hg18] 1p36.33p36.32(689,001-2,833,131)x1	2.1	1p36 deletion syndrome (MIM#607872)	GABRD, SKI	developmental delay, feeding (swallowing) difficulty in infancy, congenital heart defect (valvular defect), epilepsy	dysmorphism: midface hypoplasia, pointed chin, fifth finger clinodactyly brachydactyly; severe ID; does not speak at 15 y.o; temper tantrums
41	arr[hg18] 3q26.31(176,570,887-177,223,154)x1	0.7	-	NAALADL2	n/a	n/a
22	arr[hg18] 6p25.3p25.2(0–2,740,688)x1	2.7	Chromosome 6pter-p24 deletion syndrome (MIM#612582)	FOXC1	short stature, congenital heart defect (valvular defect), swallowing difficulties - high-arched palate; vesicoureteral reflux, depressive syndrome	dysmorphism: midface hypoplasia, hypertelorism, down-slanting palpebral fissures, flat nasal bridge
15	arr[hg18] 17q11.2(25,927,664-27,350,462)x3	1.5	NF1 microduplication syndrome (MIM#613675)	NF1, RNF135	dysmrophism: tubular nose, abnormal ears, micrognathia; cleft palate	–
18	arr[hg18] 17q21.31(41,071,028-41,569,975)x1	0.5	Koolen-de Vries syndrome (MIM#610443)	KANSL1	developmental delay, congenital heart defect, epilepsy, swallowing difficulties, vesicoureteral reflux, amblyopia	dysmorphism: long face, epicanthal folds, pear-shaped nose, broad chin, hip dislocation

Legend: MIM Mendelian Inheritance in Man Database reference number, n/a not applicable