Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

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. 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. 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.

• Publication year

  2019

• Venue

  Molecular Cytogenetics

• Publication date

  2019-01-09

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1186/s13039-018-0413-1PMID 30647775PMCID 6327517
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Prenatal diagnosis by chromosomal microarray analysis.

  2018cited by this paper
• Application of molecular cytogenetic techniques to characterize the aberrant Y chromosome arising de novo in a male fetus with mosaic 45,X and solve the discrepancy between karyotyping, chromosome microarray, and multiplex ligation dependent probe amplification.

  2018cited by this paper
• Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review.

  2017cited by this paper
• The use of chromosomal microarray for prenatal diagnosis.

  2016influential reference
• Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis.

  2015cited by this paper
• Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

  2015cited by this paper
• Genetic considerations in recurrent pregnancy loss.

  2015cited by this paper
• A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics

  2014cited by this paper
• Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

  2014cited by this paper
• Delineating the association between isodicentric chromosome Y and infertility: a retrospective study.

  2014cited by this paper
• A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

  2013cited by this paper
• The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

  2013cited by this paper
• Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)

  2012cited by this paper
• Chromosomal microarray versus karyotyping for prenatal diagnosis.

  2012cited by this paper
• QF‐PCR: application, overview and review of the literature

  2012cited by this paper
• Quantitative fluorescence PCR analysis of >40 000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X

  2012cited by this paper
• Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.

  2009cited by this paper
• Isodicentric Yp: prenatal diagnosis and outcome in 12 cases

  2006cited by this paper

• When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

  2023cites this paper
• Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report

  2023cites this paper
• Confirmatory test versus screening test analyses for fetal mosaic variations; a large scale study

  2022cites this paper
• One-step ultrasonication-assisted synthesis of graphitized multi-walled carbon nanotubes@Super P Li nanocomposite for the determination of isoproturon

  2022cites this paper
• Abnormal chromosomes identification using chromosomal microarray

  2022cites this paper
• Detection of partial deletion and mosaicism using quantitative fluorescent polymerase chain reaction: Case reports and a review of the literature

  2022cites this paper
• Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y

  2022cites this paper
• Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

  2019cites this paper
• DNA Copy Number Variations as Markers of Mutagenic Impact

  2019cites this paper
• The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity

  2019cites this paper
• Application of molecular cytogenetic techniques to characterize the aberrant Y chromosome arising de novo in a male fetus with mosaic 45,X and solve the discrepancy between karyotyping, chromosome microarray, and multiplex ligation dependent probe amplification.

  2018cites this paper