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    Glossary Chromosomal Disorder

    abnormal number or structure of chromosomes causing health issues

    A Chromosomal Disorder, also known as a Chromosomal Abnormality, occurs when there is a deviation from the normal number or structure of chromosomes in a person's cells. This can lead to various health issues and developmental problems. Examples include Down syndrome, which is caused by an extra copy of chromosome 21, and Turner syndrome, which involves a missing or incomplete X chromosome.

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    1. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    2. Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors Frontiers in Veterinary Science · 2022 · 2 citations
    3. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity British Journal of Dermatology · 1997 · 21 citations
    4. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    5. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Human Genetics · 1997 · 100 citations
    6. Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11 Mammalian Genome · 2000 · 7 citations
    7. Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics · 2007 · 143 citations
    8. Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon Mammalian genome · 2004 · 8 citations
    9. THE PATHOGENESIS OF ALOPECIA AREATA Dermatologic Clinics · 1996 · 89 citations
    10. Polycystic ovary syndrome (PCOS) trilogy: a translational and clinical review Clinical endocrinology · 2008 · 26 citations
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    Community 2

    1. Why Is No One Talking About Chromosome 20? Reddit · 15 Sept 2025
    2. Chromosome 20’s balding effects and why fin likely isn’t working for some. Reddit · 10 Sept 2025

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