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  2. Chromosome 15 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_15

    Chromosome 15 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells.

  3. Intersex - Wikipedia

    en.wikipedia.org/wiki/Intersex

    The memoir, Born Both: An Intersex Life (Hachette Books, 2017), by intersex author and activist Hida Viloria, received strong praise from The New York Times Book Review, The Washington Post, Rolling Stone, People Magazine, and Psychology Today, was one of School Library Journal 's 2017 Top Ten Adult Books for Teens, and was a 2018 Lambda ...

  4. Cat eye syndrome - Wikipedia

    en.wikipedia.org/wiki/Cat_eye_syndrome

    Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22.

  5. Uniparental disomy - Wikipedia

    en.wikipedia.org/wiki/Uniparental_disomy

    Most occurrences of UPD result in no phenotypical anomalies. However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders.

  6. Distal 18q- - Wikipedia

    en.wikipedia.org/wiki/Distal_18q-

    A 9-year-old girl with phenotypic features of De Grouchy syndrome TYPE I (Monosomy 18p or deletion 18p or 18p-). This image does not show the phenotypic features of distal 18q (de Grouchy Type 2), which are quite distinct from those of Monosomy 18p: Specialty: Medical genetics

  7. Angelman syndrome - Wikipedia

    en.wikipedia.org/wiki/Angelman_syndrome

    Angelman syndrome; Other names: Angelman's syndrome [1] [2]: A five-year-old girl with Angelman syndrome. Features shown include telecanthus, bilateral epicanthic folds, small head, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.

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  9. Ring chromosome - Wikipedia

    en.wikipedia.org/wiki/Ring_chromosome

    Human genetic disorders can be caused by ring chromosome formation. Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring chromosomes are more likely to be caused by the deletion of genes in the telomeric regions of affected chromosomes, rather than by the formation of a ring structure itself. [5]

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