ArticleMolecular cytogenetics2018
Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.
Article in Molecular cytogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.Journal of human genetics · 2026Article
- The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.Biomedicines · 2022Article
- Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype.Molecular cytogenetics · 2022Article
- A Novel Mutation inJournal of pediatric genetics · 2022Article
- Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family.Molecular cytogenetics · 2022Article
- Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2.The Journal of international medical research · 2022Article
- Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.Molecular cytogenetics · 2022Article
- Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.Molecular cytogenetics · 2022Article
- Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.Scientific reports · 2022Article
- Observational
- The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.BMC medical genomics · 2019Article
- Recombinant Chromosomes Resulting From Parental Pericentric Inversions-Two New Cases and a Review of the Literature.Frontiers in genetics · 2019Article
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16 authors.
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Abstract
backgroundCopy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in situ hybridization (FISH), yet. In the latter case a critical region probe (CRP) is combined with a control probe for identification of the chromosome in question. However, CNVs can arise also due to other reasons, like a recombination-event based on a submicroscopic, cryptic inversion in one of the parents.
resultsSeventy-four patients with different MMSs and overall 81 CNVs were studied here by a novel three color FISH approach. The way how three locus-specific probes are selected (one is the CRP and two are flanking it in a distance of 5-10 Mb) enables to detect or exclude two possible parental conditions as origins of the CNV seen in the index: (i) direct parental origin of the CNV (deletion or duplication) or (ii) a parental cryptic inversion. Thus, for overall 51/81 CNVs (63%) a parental origin could be determined. 36/51 (70.5%) inherited the CNV directly from one of the parents, but 15/51 (29.5%) were due to an exclusively by three color FISH detectable parental inversion. A 2:1 ratio of maternal versus paternal inheritance was found. Also almost two times more male than female were among the index patients.
conclusionThe new, here suggested three color FISH approach is suited for more comprehensive parental studies of patients with MMS. The detection rate for parental origin was increased by 140% in this study. Still, for 30/81 cases (37%) no reason for the 'de novo' MMS in the affected index patient could be found by the here suggested FISH-probe set.
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