ArticleMolecular cytogenetics2018
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
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 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Partial FAM19A5 deficiency in mice leads to disrupted spine maturation, hyperactivity, and an altered fear response.PloS one · 2025Article
- Can Adipokine FAM19A5 Be a Biomarker of Metabolic Disorders?Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- FAM19A5/TAFA5, a novel neurokine, plays a crucial role in depressive-like and spatial memory-related behaviors in mice.Molecular psychiatry · 2021Article
- Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.Scientific reports · 2021Article
- Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.PloS one · 2021Observational
- Association of Serum FAM19A5 with Cognitive Impairment in Vascular Dementia.Disease markers · 2020Article
- Opening up new horizons for psychiatric genetics in the Russian Federation: moving toward a national consortium.Molecular psychiatry · 2019Article
- FAM19A5 Expression During Embryogenesis and in the Adult Traumatic Brain ofFrontiers in neuroscience · 2019Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundRing chromosome instability may influence a patient's phenotype and challenge its interpretation.
resultsHere, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a
conclusionsWe believe that a combination of 22q13.32-q13.33 deletion and monosomy 22 in a portion of cells can better define the clinical phenotype of the patient. Importantly, the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.