PMID- 30647775 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220408 IS - 1755-8166 (Print) IS - 1755-8166 (Electronic) IS - 1755-8166 (Linking) VI - 12 DP - 2019 TI - Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes. PG - 1 LID - 10.1186/s13039-018-0413-1 [doi] LID - 1 AB - BACKGROUND: Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosing of uncommon abnormal sex chromosome abnormalities in prenatal cases. CASE PRESENTATION: A 26-year-old healthy woman was referred to our centre at 24 weeks of gestation age. Ultrasound examination indicated she was pregnant with imbalanced development of twins. Amniocentesis was referred to the patient for further genetic analyses. Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) indicated the existence of an extra Y chromosome or a structurally abnormal Y chromosome in primary amniotic cells. Chromosome microarray (CMA) analysis based on Comparative Genomic Hybridization (aCGH) platform was performed and identified a 10.1 Mb deletion on Y chromosome in 8-days cultured amniotic cells. Combined with the data of QF-PCR and aCGH, karyotyping and fluorescence in situ hybridization (FISH) revealed a mosaic cell line of 45,X[27]/46,X, idic(Y)(q11.22) [14] in fetus.The karyotyping analysis of cord blood sample was consistent with amniotic cells. The parental karyotypes were normal, which indicated this mosaic case of isodicentric Y (idicY) chromosomes of the fetus was a de novo case. CONCLUSION: Several approaches have been used for the detection of numerical and structural chromosomal alterations of on prenatal cases. Our report supported the essential role of incorporating multiple genetic techniques in prenatal diagnosing and genetic counseling of potential complex sex chromosomal rearrangements. FAU - Liu, Yuan AU - Liu Y AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Guo, Li AU - Guo L AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Chen, Hanbiao AU - Chen H AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Lu, Jian AU - Lu J AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Hu, Jingjing AU - Hu J AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Li, Xianzheng AU - Li X AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Li, Xing AU - Li X AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Wang, Ting AU - Wang T AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Li, Fengzhen AU - Li F AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 FAU - Yin, Aihua AU - Yin A AD - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 AD - 2Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China. GRID: grid.459579.3 LA - eng PT - Case Reports DEP - 20190109 PL - England TA - Mol Cytogenet JT - Molecular cytogenetics JID - 101317942 PMC - PMC6327517 OTO - NOTNLM OT - FISH, CMA, QF-PCR OT - Isodicentric Y OT - Karyotyping OT - Prenatal diagnosis COIS- This study was performed with the approval of Medical Ethics Committee of Guangdong Women and Children Hospital.The patient in this case report had provided her consent for publication.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. EDAT- 2019/01/17 06:00 MHDA- 2019/01/17 06:01 PMCR- 2019/01/09 CRDT- 2019/01/17 06:00 PHST- 2018/09/18 00:00 [received] PHST- 2018/12/17 00:00 [accepted] PHST- 2019/01/17 06:00 [entrez] PHST- 2019/01/17 06:00 [pubmed] PHST- 2019/01/17 06:01 [medline] PHST- 2019/01/09 00:00 [pmc-release] AID - 413 [pii] AID - 10.1186/s13039-018-0413-1 [doi] PST - epublish SO - Mol Cytogenet. 2019 Jan 9;12:1. doi: 10.1186/s13039-018-0413-1. eCollection 2019.