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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

Fig. 2

SNP array results and multiple ultrasonic malformations of three cases involved imprinted chromosome 14 and 15. (a1) SNP array revealed that case 3 arose by monosomy rescue with iso-UPD (14). (a2a5) The multiple ultrasound malformations observed for case 3 included peritoneal effusion, omphalocele, ventricular septal defect, and small gastric vesicle. (b1) SNP array revealed that case 5 arose by trisomy rescue with mixed hetero/iso- UPD (15) from meiosis I non-disjunction error. (b2b7) The multiple ultrasound malformations observed for case 5 included scalp edema, chest wall edema, abdominal wall edema, bilateral pleural effusion, ascites, and bilateral kidney edema. (c1) SNP array revealed that case 6 arose by trisomy rescue with mixed hetero/iso-UPD (15) from meiosis II nondisjunction error. (d1) The copy number ratio of the 15q11 region was 1 for two cases of UPD (15). (d2) Methylation ratio of the imprinted allele of chromosome 15q11 after digestion was 1 for two cases of UPD(15)

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