Paper · 39152134

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Shimojima Yamamoto K and 4 others. Hum Genome Var, 2024. Cited by 2 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX. Papers, record 39152134. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/39152134

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Title: Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.; PubMed
Journal: Hum Genome Var; PubMed
Year: 2024; PubMed
Publication types: Journal Article; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/39152134/; PubMed
DOI: https://doi.org/10.1038/s41439-024-00289-6; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC11329761/; PubMed
The journal: https://conductscience.org/library/journal-index/101652445; PubMed
Citations, by iCite: 2; iCite
Relative citation ratio, by iCite: 0.47, provisional; iCite
Revised in PubMed: 2025-02-05; PubMed

Authors5

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename	ORCID iD
1	Shimojima Yamamoto K	Keiko	https://orcid.org/0000-0003-2362-3844
2	Yamamoto S	Sakurako
3	Imaizumi T	Taichi
4	Kumada S	Satoko
5	Yamamoto T	Toshiyuki	https://orcid.org/0000-0002-9484-3505

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Topics0

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Trials0

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Comments and corrections0

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None in this release.

References30

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	2,791,329	Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques.	Clin Genet	1989	https://conductscience.org/library/papers/2791329	PubMed
2	9,237,509	Identification of the parental origin of polysomy in two 49,XXXXY cases.	Clin Genet	1997	https://conductscience.org/library/papers/9237509	PubMed
3	13,690,988	An XXXX sex chromosome complex in two mentally defective females.	Can Med Assoc J	1961	https://conductscience.org/library/papers/13690988	PubMed
4	7,246,603	Pentasomy X: report of patient and studies of X-inactivation.	Am J Med Genet	1981	https://conductscience.org/library/papers/7246603	PubMed
5	32,463,164	A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.	Mol Genet Genomic Med	2020	https://conductscience.org/library/papers/32463164	PubMed
6	12,199,336	Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature.	J Pediatr Endocrinol Metab	2002	https://conductscience.org/library/papers/12199336	PubMed
7	1,355,562	Parental origin of extra chromosomes in persons with X chromosome tetrasomy.	J Med Genet	1992	https://conductscience.org/library/papers/1355562	PubMed
8	15,333,671	A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.	J Clin Pathol	2004	https://conductscience.org/library/papers/15333671	PubMed
9	9,737,772	Histone H4 acetylation analyses in patients with polysomy X: implications for the mechanism of X inactivation.	Hum Genet	1998	https://conductscience.org/library/papers/9737772	PubMed
10	1,512,000	Uniparental origin of sex chromosome polysomies.	Hum Hered	1992	https://conductscience.org/library/papers/1512000	PubMed

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Cited by1

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 2 citations.

PMID	Title	Journal	Year	In Papers
40,427,413	An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.	Antioxidants (Basel)	2025	https://conductscience.org/library/papers/40427413

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Genes0

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None in this release.

Drugs0

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Data dates

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PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

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ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

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ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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