Table 1 SNP-array and karyotype results of 15 fetuses with ROH
From: Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
No | SNP-array (ROH) | Chromosome | Size (Mb) | Indications | Karyotype | Follow-up |
|---|---|---|---|---|---|---|
1 | arr[hg19] 6q13q14.1(71116171_83031752) × 2 hmz | 6 | 12.0 | High risk of serum screening | 46,XY,inv(9)(p12q13) | Two-years-old growth and development is normal |
2 | arr[GRCh37] 6q14.1q15(79854364_89916843) × 2 hmz | 6 | 10.0 | Ultrasound soft marker | 46,XY | one-year-old growth and development is normal |
3 | arr[GRCh37]6q22.31q23.2(123304566_134548143) × 2hmz (paternal UPD) | 6 | 11.2 | Thickened nuchal fold Agenesis of the corpus callosum; High risk of serum screening; High risk of neural tube defects | 46,XY | TOP |
4 | arr[hg19] 7q31.2q32.1(115333496_128333758) × 2 hmz | 7 | 13.0;12.7 | Thickened nuchal translucency | 46,XX | A female infant with normal external examination |
5 | arr[hg19] 7q33q36.3(137994712_157061474) × 2 hmz | 7 | 19.1 | First trimester medication history | 46,XY | A male infant with normal external examination |
6 | arr[GRCh37]7q11.23q22.1(74069645_102039696) × 2 hmz (maternal UPD) | 7 | 28.0 | Both spouses have thalassemia | CVS karyotype:mos 47,XY, + 7[21]/46,XY,[44]; AF karyotype: 46,XY | TOP |
7 | arr[hg19] 11p13q13.3(32228901_69217423) × 2 hmz | 11 | 37.0 | High risk of serum screening | 46,XY | A male infant with normal external examination |
8 | arr[GRCh37] 11q13.4q14.2(75162918_87295319) × 2 hmz (exclude UPD) | 11 | 12.1 | Advanced maternal age | 46,XY | A male infant with normal external examination |
9 | arr[GRCh37] 11p15.1p14.1(18804524_30833779) × 2 hmz (exclude UPD) | 11 | 12.0 | Get a COVID-19 vaccine in the first trimester | 46,XX | A female infant with normal external examination |
10 | arr[GRCh37] 11p15.5p15.1(230751_20060445) × 2 hmz | 11 | 19.8 | Thickened nuchal fold; ultrasound soft marker | 46,XY | 9 months old growth and development is normal |
11 | arr[GRCh37] 11p11.2q13.2(44287149_68239940) × 2 hmz | 11 | 23.9 | Both spouses are intellectual disability | 46,XY | TOP |
12 | arr[GRCh37] 11p15.3p14.3(12110677_23047939) × 2 hmz | 11 | 10.9 | Thickened nuchal translucency; Pervious adverse pregnancies | 46,XY | 6 months old growth and development is normal |
13 | arr[GRCh37]14q11.2q32.33(20520198_107279475) × 2 hmz (paternal UPD) | 14 | Chromosome 14 | Thickened nuchal fold; Agenesis of the corpus callosum | 46,XY | TOP |
14 | arr[hg19] 15q21.1q22.2(48335576_60931242) × 2 hmz (exclude UPD) | 15 | 12.6 | Thickened nuchal translucency; Cardiac abnormalities | 46,XX | TOP |
15 | arr[GRCh37] 20q11.21q12(29510307_40604830) × 2 hmz | 20 | 11.1 | Fetal bowel echo enhancement, left ventricular intense spot | 46,XX | 18 months old growth and development is normal |