SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
Table 8
Clinical details of 22q11.2 CNVs detected by SNP microarray.
Microarray details
Genes
TBX1/DGCR2/DGCR6/DGCR14/DGCR8
Clinical details
Other CNVs
3 mb deletion
58
Y/Y/Y/Y/Y
Male of 3+ years with tetralogy of Fallot (TOF; operated) and facial dysmorphism, broad nose, feeding difficulty, and so forth
Nil
2.5 mb deletion
65
Y/Y/Y/Y/Y
7-year-old female with TOF and dysmorphism
7q11.21 ()
0.38 mb deletion
15
Y/N/N/N/N
1.5-year-old male with TOF
Nil
2.17 mb deletion
49
Y/Y/Y/Y/Y
34-year-old male referred from anesthesia ICU for hypoparathyroidism, hypocalcemia, recurrent fungal infection, seizure, and respiratory failure (since last 45 days)
Nil
2.9 mb deletion
69
Y/Y/Y/Y/Y
1.5-year-old male with TOF, facial dysmorphism, GDD, and speech delay
Nil
2.9 mb deletion
69
Y/Y/Y/Y/Y
45-day-old female with TOF, recurrent intractable seizure, recurrent infection, suckling difficulties, low calcium, absent thymic shadow on X-ray, and history of polyhydramnios during pregnancy
Nil
0.18 mb duplication
6
N/Y/Y/N/N
10-month-old female with CHD, frontal bossing, prominent metopic suture, hypertelorism, V shaped lip, dysplastic ear, wide spaced nipple, pectus carinatum, mid gut volvulus, and so forth
2p22.3 () 11p11.12 () 14q11.2 ()
2.79 mb deletion
68
Y/Y/Y/Y/Y
3-year-old male with seizure, GDD, dysmorphism, high arched palate, long slender fingers, low parathyroid hormone (PTH), low calcium, recurrent infection, and so forth
