Research Article

SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome

Table 11

Clinical details of LOH/AOH detected by SNP microarray with known UPD disorders.

Locus/lociGenesClinical detailsUPD disorders

11q13.4-q14.1969-year-old male with TOF (operated)Dysmorphism and mental retardation

14q32.2115-year-old male with TOF (operated)Kagami-Ogata syndrome/Temple syndrome

6p22.3-p21.321124-year-old male with TOF (operated), cleft lip and palate (repaired), broad and bifid nose, small left cornea and eye, GDD, hearing problem, being still unable to suck/drink, long fingers, small philtrum, mental retardation, and so forth (Figure 3)Diabetes mellitus, transient neonatal, 1

7p12.2-p11.2293.5-year-old male with TOF (operated), GDD, and previous 2 siblings with CHDSilver-Russell syndrome (7p11.2-p13)

6q24.2-q25.14910-month-old male with cyanotic CHD, GDD, obesity, hypospadias, no cryptorchidism, dysmorphism, and one elder sister who has CHDTransient neonatal diabetes mellitus and isolated cleft lip and palate

7q31.32-q3516714-month-old female with TOF, small nose, wide philtrum, narrow forehead, low frontal hairline, GDD, broad nose, short stature, bilateral cataract, and previous 3 siblings with malformations (including CHD in one)Silver-Russell syndrome (7q31-qter)

11p15.45521.5-year-old male with cyanotic CHD, dysmorphism, clubbing, dysplastic small low set ears, weight of 8 kg (overweight), and so forthBeckwith-Wiedemann syndrome

11p15.5-p15.46-day-old very sick (in ICU) male with dysmorphism, CCF, and so forthBeckwith-Wiedemann

15q11.2-q127019-year-old male with TOF (operated)Prader-Willi/Angelman

11q24.2-q259015-year-old male with TOF (operated)Dysmorphism and mental retardation

11q13.4-q14.1964-year-old male with TOF (operated), cleft lip and palate (repaired), broad and bifid nose, small left cornea and eye, GDD, hearing problem, being still unable to suck/drink, long fingers, small philtrum, mental retardation, and so forthDysmorphism and mental retardation