Chromosomal Abnormalities

Chromosome abnormalities can be classified as either structural or numerical. Numerical abnormalities include duplications or deletion of a pair of chromosomes, such as Down Syndrome. Structural abnormalities include missing, extra or switched parts of a chromosome. Discover the latest research on chromosomal abnormalities here.

January 16, 2021
Case Report

Orthodontic treatment and aesthetic rehabilitation in a patient with Turner syndrome: A case report

Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Felipe Franco MarçalAnya Pimentel Gomes Fernandes Vieira-Meyer
January 16, 2021

CRISPR base editing applications for identifying cancer-driving mutations

Biochemical Society Transactions
Martin Pal, Marco J Herold
January 15, 2021
Case Report

45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea : A Case Report

Journal of the ASEAN Federation of Endocrine Societies
Eunice Yi Chwen Lau, Yin Khet Fung
January 14, 2021
Preprint
Open Access

Knowledge, attitudes, practices, and the effects of COVID-19 among the youth in Kenya

ResearchSquare
Evalin KarijoTimothy Abuya
January 17, 2021

Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India

Indian Pediatrics
Sunetra MondalSatinath Mukhopadhyay
January 17, 2021
Comment / Editorial

Mentally Fit: Negotiating the Boundaries of Cognitive Disability

Medical Anthropology
Patrick McKearney, Anna Zogas
January 16, 2021

Aneuploidy in human eggs: contributions of the meiotic spindle

Biochemical Society Transactions
Christopher ThomasMelina Schuh
January 16, 2021

Primacy of plants in driving the response of arthropod communities to drought

Oecologia
Jessica T KansmanDeborah L Finke
January 16, 2021
Review

Preimplantation Genetic Testing for Aneuploidy - a Castle Built on Sand

Trends in Molecular Medicine
Norbert GleicherAli Brivanlou
January 15, 2021
Open Access

Fission Yeast Methylenetetrahydrofolate Reductase Ensures Mitotic and Meiotic Chromosome Segregation Fidelity

International Journal of Molecular Sciences
Kim Kiat LimEe Sin Chen
January 14, 2021
Preprint
Open Access

MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

BioRxiv : the Preprint Server for Biology
R. FragozaJohn C. Schimenti
January 16, 2021
Case Report
Open Access

Mosaic Turner syndrome with improved Chiari type 1 malformation after growth hormone therapy: A case report

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
Toshihiko MoriShigeto Fuse
January 16, 2021

Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report

Ginekologia polska
Anna M Kucińska-ChahwanBeata A Nowakowska

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