Chromosome Disorders

"Chromosome Disorders" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Descriptor ID	D025063
MeSH Number(s)	C16.131.260 C16.320.180
Concept/Terms	Chromosome Disorders Chromosome Disorders Chromosome Disorder Disorder, Chromosome Disorders, Chromosome Chromosome Abnormality Disorders Chromosome Abnormality Disorder Disorder, Chromosome Abnormality Chromosomal Disorders Chromosomal Disorder Disorder, Chromosomal Disorders, Chromosomal Autosomal Chromosome Disorders Autosomal Chromosome Disorders Autosomal Chromosome Disorder Chromosome Disorder, Autosomal Chromosome Disorders, Autosomal

Below are MeSH descriptors whose meaning is more general than "Chromosome Disorders".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]

Below are MeSH descriptors whose meaning is related to "Chromosome Disorders".

Below are MeSH descriptors whose meaning is more specific than "Chromosome Disorders".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Chromosome Disorders" by people in this website by year, and whether "Chromosome Disorders" was a major or minor topic of these publications.

Bar chart showing 20 publications over 13 distinct years, with a maximum of 3 publications in 2014 and 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1997	0	1	1
2006	1	0	1
2007	1	0	1
2011	1	0	1
2012	1	0	1
2013	2	0	2
2014	1	2	3
2015	1	0	1
2016	1	0	1
2017	2	1	3
2018	2	0	2
2019	2	0	2
2021	1	0	1

Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.

Wang JW, Lyu YN, Qiao B, Li Y, Zhang Y, Dhanyamraju PK, Bamme Y, Yu MD, Yang D, Tong YQ. Cell-free fetal DNA testing and its correlation with prenatal indications. BMC Pregnancy Childbirth. 2021 Aug 24; 21(1):585.

View in: PubMed
Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):53-63.

View in: PubMed
Jacobs JP, O'Brien SM, Hill KD, Kumar SR, Austin EH, Gaynor JW, Gruber PJ, Jonas RA, Pasquali SK, Pizarro C, St Louis JD, Meza J, Thibault D, Shahian DM, Mayer JE, Jacobs ML. Refining The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model With Enhanced Risk Adjustment for Chromosomal Abnormalities, Syndromes, and Noncardiac Congenital Anatomic Abnormalities. Ann Thorac Surg. 2019 08; 108(2):558-566.

View in: PubMed
Saffren BD, Capasso JE, Zanolli M, Levin AV. Ocular manifestations of Emanuel syndrome. Am J Med Genet A. 2018 09; 176(9):1964-1967.

View in: PubMed
Morin SJ, Kaser DJ, Franasiak JM. The dilemma of aneuploidy screening on low responders. Curr Opin Obstet Gynecol. 2018 06; 30(3):179-184.

View in: PubMed
Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB. Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. Am J Med Genet A. 2017 Dec; 173(12):3205-3210.

View in: PubMed
Al-Ibraheemi Z, Rosenn B, Porat N, Taylor D, Kalberer M, Nelson Z. Changing Face of Invasive Diagnostic Testing in the Era of Cell-Free DNA. Am J Perinatol. 2017 09; 34(11):1142-1147.

View in: PubMed
Scott RT. Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening. Fertil Steril. 2017 01; 107(1):4-5.

View in: PubMed
Treff NR, Franasiak JM. Detection of segmental aneuploidy and mosaicism in the human preimplantation embryo: technical considerations and limitations. Fertil Steril. 2017 01; 107(1):27-31.

View in: PubMed
Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A. 2015 Dec; 167A(12):3091-5.

View in: PubMed

People

Explore

Similar Concepts

Top Journals

The Thomas Jefferson University web site, its contents and programs, is provided for informational and educational purposes only and is not intended as medical advice nor is it intended to create any physician-patient relationship. Please remember that this information should not substitute for a visit or a consultation with a health care provider. The views or opinions expressed in the resources provided do not necessarily reflect those of Thomas Jefferson University, Thomas Jefferson University Hospital, or the Jefferson Health System or staff.
Please read our Privacy Statement