SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
Table 7
Clinical details of chromosomal abnormalities detected by SNP microarray.
Locus/loci (CNV)
Microarray diagnosis
Clinical details
Referral reason
18p11.32-p11.21 18q11.1-q23 ()
Trisomy 18
Seven-month-old male with acyanotic congenital heart defect (CHD)
CHD To exclude 22q11.2 microdeletion
All chromosomes ()
Triploidy (mosaicism confirmed by FISH; 33% triploid cells)
Five-year-old female (at first visit) and now 13 years old without any secondary sex character (Figure 1), less fetal movement during pregnancy, cesarean section delivery due to nonprogress of labor, feeding problem, DTGV (dextrotransposition of great vessels) operated and ASD (atrial septal defect), global developmental delay (GDD), broad thumb and toe, convulsion (controlled), hypertelorism, bulbus nose, rocker bottom feet, and periventricular leukomalacia on MRI
CHD To exclude 22q11.2 microdeletion
18q21.31-q23 ()
Partial 18q monosomy
One-month-old male in intensive care unit (ICU), acyanotic CHD with congestive cardiac failure (CCF), and Noonan syndrome like face, plagiocephaly, low set ears, upslanted eyes, sandal gap, and so forth
?Noonan syndrome
11q23.2-q25 ()
Partial 11q trisomy (Jacobsen, Bartter 2, 11q)
Seven-day-old female neonate in ICU, asymmetric IUGR (intrauterine growth restriction), preterm, multiple malformations, respiratory infection, VSD (ventricular septal defect), hypoplastic nail and alae nasi, blepharophimosis, hypotonia, and so forth
CHD To exclude 22q11.2 microdeletion
All chromosomes ()
Triploidy (mosaicism confirmed by FISH; 24% triploid cells)
Eight-year-old female with dysmorphism (broad nose, cleft palate, thin lip, and long philtrum), long slender fingers, GDD, recurrent respiratory infection, behavioral problem, and so forth
Broad nose, behavioral problem To exclude 22q11.2 microdeletion
21q11.2 q22.3 ()
Trisomy 21
Three-month-old male in Pediatric ICU with CCF, very sick
