Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review

• Published in: BMC medical genomics 2019-12, Vol.12 (1), p.197-197, Article 197
• Main Authors: Sun, Shaohua, Zhan, Fang, Jiang, Jiusheng, Zhang, Xuerui, Yan, Lei, Cai, Weiyi, Liu, Hailiang, Cao, Donghua
• Format: Article
• Language: English
• Subjects: Adult; Amniotic fluid; Analysis; B cells; Blood diseases; Case Report; Case reports; Chromosomes; Chromosomes, Human, Pair 8 - genetics; Cytogenetics; DNA microarrays; Female; Females; Fetuses; Genetic research; Genetic variability; Hematologic diseases; Hematological diseases; Hematology; Humans; Karyotypes; Karyotyping; Karyotyping and prenatal diagnosis; Leukemia; Literature reviews; Maternal & child health; Microscopy; Mosaicism; Mutation; Myeloid cells; Next generation sequencing (NGS); Next-generation sequencing; Peripheral blood; Phenotype; Pregnancy; Pregnant women; Prenatal Diagnosis; Trisomy; Trisomy - diagnosis; Trisomy - genetics; Trisomy 8 mosaicism; Ulcers; Ultrasonic imaging; Ultrasound; Uniparental Disomy - diagnosis; Uniparental Disomy - genetics; Women
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-019-0639-8

Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (