ArticleBMC medical genetics2014
Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Prenatal Diagnosis and Postnatal Follow-Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang.Molecular genetics & genomic medicine · 2026Article
- Prenatal diagnosis of fetuses with ultrasound soft markers.BMC pregnancy and childbirth · 2025Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms.
methodsA familial, combined genomic and cytogenetic approach was systematically applied to the parents of all patients with unbalanced genome copy number changes.
resultsDiscordant array-CGH and FISH results in the mother of a child with a prenatally detected 16p13.11 interstitial microduplication disclosed a balanced uncommon rearrangement in this chromosomal region. Further dosage and haplotype familial studies revealed that both the maternal grandfather and uncle had also the same 16p duplication as the proband. Genomic compensation observed in the mother probably occurred as a consequence of interchromosomal postzygotic nonallelic homologous recombination.
conclusionsWe emphasize that such a dualistic strategy is essential for the full characterization of genomic rearrangements as well as for appropriate genetic counseling.
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