Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India

Table 3 shows clinical manifestations of patients with 22q11.2 microdeletion (n = 9)

Case	Age	Gender	Religion	Cardiac Abnormality	Extra cardiac Abnormality	Interphase FISH Result *RP5-882J5 (22q11.2) deleted
1	96 months	Female	Muslim	TOF	FD, BD, LD/DD	93% interphase cells with hemizygous microdeletion
2	14 months	Male	Hindu	TOF	FD, HT, LD/DD	98.5% interphase cells with hemizygous microdeletion
3	33 months	Male	Hindu	TOF	FD, HT, SS, LD/DD	Mosaic; 8% normal interphase cells (metaphase: 2 without & 18 with hemizygous microdeletion)
4	18 months	Male	Hindu	TOF	FD, CS, LD/DD	Mosaic; 15% interphase cells with hemizygous microdeletion (metaphase: 1 with & 9 without hemizygous microdeletion)
5	75 days	Male	Hindu	TOF	FD, VPI, DD, HC	96% interphase cells with hemizygous microdeletion
6	55 days	Female	Hindu	TOF	FD, HC	97.5% interphase cells with hemizygous microdeletion
7	60 days	Male	Hindu	TOF	FD, HC	94% interphase cells with hemizygous microdeletion
8	36 months	Female	Hindu	TOF	FD, LD/DD	95% interphase cells with hemizygous microdeletion
9	10 months	Male	Hindu	TOF	FD, DD	Mosaic; 30% interphase cells with hemizygous microdeletion (metaphase: 3 with & 8 without hemizygous microdeletion)

TOF = tetralogy of Fallot; FD = facial dysmorphism; LD/DD = learning difficulties/developmental delay; BD = behavioural disorder; HT = hypotonia; SS = short stature; CS = craniostenosis (metopic suture); HC = hypocalcaemia; VPI = velopharyngeal insufficiency
*Other 2 probes i.e., RP11-22M5 (22q11.22) & CTA-154H4 (22q11.21) were found dizygous (i.e., not deleted)

ISSN: 1471-2350