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  2. Distal 18q- - Wikipedia

    en.wikipedia.org/wiki/Distal_18q-

    As mentioned above, distal 18q- is associated with an increased incidence of clubfoot and rocker bottom feet. Also, a significant chance of developing pes planus or pes cavus exists. People with distal 18q- frequently have overlapping toes. Scoliosis and genu varum are also known orthopedic complications in children and adults with distal 18q-.

  3. Ring chromosome 18 - Wikipedia

    en.wikipedia.org/wiki/Ring_chromosome_18

    The ring is formed when the caps on both the long arm (q) and the short arm (p) of one copy of chromosome 18 are lost and the new ends re-join to form the ring. Because the ring involves deletions of both the long arm (18q-) and the short arm (18p-) of chromosome 18, individuals with ring 18 can have features of both 18p-as well as distal 18q-.

  4. Trisomy 18 - Wikipedia

    en.wikipedia.org/wiki/Trisomy_18

    Treatment is supportive. [2] After having one child with the condition, the risk of having a second is typically around one percent. [2] It is the second-most common condition due to a third chromosome at birth, after Down syndrome for a third chromosome 21. [4] Trisomy 18 occurs in around 1 in 5,000 live births. [3]

  5. Chromosome 18 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_18

    The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction).

  6. 1q21.1 duplication syndrome - Wikipedia

    en.wikipedia.org/wiki/1q21.1_duplication_syndrome

    1q21.1 duplication syndrome arises from microduplications of the BP3-BP4 region, containing at least seven genes and a minimum duplicated region of ~1.2 Mb of unique DNA sequence. [ 7 ] 1q21.1 duplication syndrome has an autosomal dominant inheritance pattern, where 18–50% of deletions happen de novo and 50–82% are inherited from their parents.

  7. 18p- - Wikipedia

    en.wikipedia.org/wiki/18p-

    18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births.

  8. Beckwith–Wiedemann syndrome - Wikipedia

    en.wikipedia.org/wiki/Beckwith–Wiedemann_syndrome

    Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

  9. Esophagogastric junction outflow obstruction - Wikipedia

    en.wikipedia.org/wiki/Esophagogastric_junction...

    Treatment primarily consists of addressing the underlying cause of EGJOO. [2] For example, gastroesophageal reflux disease (GERD) with reflux esophagitis is treated with proton pump inhibitors. Esophageal rings or strictures may be treated with esophageal dilation. Simple observation may be considered, [5] especially if symptoms are minimal or ...

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