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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
    11. The hair shaft: normality, abnormality, and genetics Clinics in Dermatology · 2001 · 11 citations
    12. Molecular and functional aspects of the hairless (<i>hr</i>) gene in laboratory rodents and humans Experimental Dermatology · 1998 · 126 citations
    13. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    14. Monilethrix International Journal of Trichology · 2013 · 4 citations
    15. Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome Pharmacopsychiatry · 2016 · 2 citations
    16. Frontal Fibrosing Alopecia CRC Press eBooks · 2021 · 1 citations
    17. Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz Acta dermato-venereologica · 2018 · 1 citations
    18. Monilethrix: Beaded hair and hypotrichosis in a child Cosmoderma · 2026
    19. ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic Journal of the Endocrine Society · 2022
    20. Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1 Journal of Dermatological Science · 2010 · 4 citations
    21. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response Molecular cytogenetics · 2014 · 5 citations
    22. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13 Human Molecular Genetics · 1995 · 54 citations
    23. Chromosomal Localization of Mouse Hair Keratin Genes<sup>a</sup> Annals of the New York Academy of Sciences · 1991 · 21 citations
    24. Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes Biochemical and Biophysical Research Communications · 2000 · 12 citations
    25. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    26. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    27. Curly : a new hair defect mutation in the SELH/bc mouse strain 2009
    28. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    29. Complex X chromosome rearrangement associated with multiorgan autoimmunity Molecular cytogenetics · 2015 · 8 citations
    30. (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report The Journal of Sexual Medicine · 2026