Table 2 The summary of trisomy 2 mosaicism in published literature and present cases
From: Prenatal diagnosis of mosaic trisomy 2 and literature review
Reference | Karyotype | Indication | Phenotype | Outcome | Trisomy 2 mosaic rate in amnioce-ntesis | Molecular findings |
|---|---|---|---|---|---|---|
Case1 | 47,XY,+2/46,XY | AMA, Abnormal NIPT and ultrasound | Long bones smaller than gestational weeks | TOP | 29.6% | SNP-array:arr[GRCh38] (2)Ă—2~3; Interphase Fish: 14% trisomy 2 |
Case2 | 47,XX,+2/46,XX | Elevated MShCG, Abnormal NIPT and ultrasound | Cardiac defects, IUGR | TOP | 20% | SNP-array:arr[GRCh38] (2)Ă—2~3; Interphase Fish: 12% trisomy 2 |
Sago et al. [5] | 47,XY,+2/46,XY | Elevated MSAFP,IUGR | Hypotonia, microcephaly, growth retardation, developmental delay, prominent occiput, beaked-prominent nose, flat malar area, thin lip, pointed chin, pectus excavatum, inguinal hernias, V- shaped palate, rocker- bottom feet, congenital heart defects, hydronephrosis, vesicoureteral reflux, delay myelination, a thin corpus callosum, hippocampal dysplasia, portal fibrosis | Delivery at 30 week,1135 g | 22.60% | NA |
Casey et al. [16] | 47,XY,+2/46,XY | Ventriculomegaly, extremity discordance | Posteriorly rotated ears, high arched palate, widely spaced nipples, lowset bilateral simian creases, bilateral overlapping 4th and 5th fingers | Delivery at 39 week, 2445 g | 12% | NA |
Webb et al. [17] | 47,XX,+2/46,XX | AMA,oligohydramnios, Elevated MSAFP,IUGR | Renal failure, vesicouteric reflux, patent ductus ateriosus, congenital pyloric stenosis, hiatus hernia | Delivery at 31 week, 765 g | 23.40% | maternal UPD(2) |
Harrison et al. [8] | 47,XY,+2/46,XY | Elevated MShCG, normal AFAFP, oligohydramnios, IUGR, breech presentation | Growth failure, hypothyroidism, hyaline membrane disease, bronchopulmonary dysplasia | Delivery at 36 week, 1710 g | 32.50% | maternal UPD(2) |
Cramer et al. [18] | NA | IUGR, breech presentation | Hypertelorism, midface hypoplasia, frontal bossing, unilateral proptosis, contralateral ptosis, broad halluces, radial deviation of the wrist, scoliosis, unilateral radioulnar hypoplasia, gross motor and growth delay (Pfeiffer syndrome like) | Livebirth | NA | NA |
Robinson et al. [19] | 47,XY,+2/46,XY | Abnormal maternal serum screen for AFP and hCG, Down risk 1/90 | Mild dysmorphic features, absent gall bladder, cystic left kidney, 13th left rib, Mild unilateral talipes | TOP | 56.70% | multiple tissue mosaicism (Interphase FISH) |
Pappas et al. [20] | 47,XY,+2/46,XY | AMA,Abnormal ultrasound ventriculomegaly Elevated AFAFP | Lumbosacral spina bifida | TOP | 23.40% | NA |
Sifakis et al. [4] | 47,XY,+2/46,XY | AMA | No phenotypic abnormalities | TOP | 16% | NA |
Sifakis et al. [21] | NA | IUGR, oligohydramnios | coarctation of the aorta | TOP | 1.90% | NA |
Hsu et al. [15] | 47,XY,+2/46,XY | AMA | NA | Livebirth | 4% | NA |
47,XX,+2/46,XX | Elevated MSAFP | No phenotypic abnormalities | Stillbirth | 6.30% | NA | |
47,XX,+2/46,XX | NA | NA | IUFD | 6.70% | NA | |
47,XX,+2/46,XX | Elevated MSAFP, oligohydramnios | Abnormal abortus, dolichocephaly | TOP | 33.30% | NA | |
47,XX,+2/46,XX | NA | NA | Stillbirth | 20% | NA | |
Chen et al. [9] | 47,XY,+2/46,XY | Abnormal MSS, Down risk 1/12,IUGR,severe oligohydramnios, ventricular septal defect | Micrognathia, depressed nasal bridge, low-set ears, and preaxial polydactyly of the right hand | TOP | 26% | aCGH:242.9 Mb duplication of 2p25.3-q37.3;Interphase Fish: 11.1% trisomy 2 |
Chen et al. [22] | 47,XX,+2/46,XX | AMA | No phenotypic abnormalities | Livebirth | 5% | Interphase Fish: 3.4% trisomy 2 |
Chen et al. [23] | 47,XY,+2/46,XY | Abnormal MSS | No phenotypic abnormalities | Livebirth | 4.80% | Interphase Fish: 16% trisomy 2 |
Chen et al. [24] | 47,XX,+2/46,XX | AMA,IUGR | Low-set ears, macroglossia, clenched hands | TOP | 30% | aCGH:trisomy 2 mosaicism; Interphase Fish: 12% trisomy 2 |
TuÄź et al. [1] | 47,XX,+2/46,XX | AMA,Abnormal MSS, Down risk:1/50 | Cardiac dextroposition and diaphragmatic hernia | TOP | 14% | NA |
Bui et al. [25] | 47,XY,+2/46,XY | NA | Transversal hemimelia | TOP | NA | NA |
47,XY,+2/46,XY | NA | Ambiguous external genitalia | TOP | NA | NA |