enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. 10q26 deletion - Wikipedia

    en.wikipedia.org/wiki/10q26_deletion

    10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26. [1] It is usually a de novo mutation.Symptoms can include "growth and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic ears, various congenital heart defects, cryptorchidism ...

  3. Chromosome 10 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_10

    Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs (the building material of DNA ) and represents between 4 and 4.5 percent of the total DNA in cells .

  4. The CDCA7 gene is located on chromosome 2 (2q31.1). [citation needed] The DNMT3B gene is located on chromosome 20 (20q11.2)). [6] [7] The HELLS gene is located on chromosome 10 (10q23.33) [citation needed] The ZBTB24 gene is located on chromosome 6 (6q21) [citation needed] This disease is inherited in an autosomal recessive manner. [2]

  5. Hermansky–Pudlak syndrome - Wikipedia

    en.wikipedia.org/wiki/Hermansky–Pudlak_syndrome

    Hermansky–Pudlak syndrome is thought to be inherited as an autosomal recessive genetic trait. The defective gene, called HSP [dubious – discuss], responsible for this disorder is located on the long arm of chromosome 10 (10q2). Some research suggests that an abnormality of lysosomal function may be responsible for the development of the ...

  6. Distal trisomy 10q - Wikipedia

    en.wikipedia.org/wiki/Distal_trisomy_10q

    In Distal Trisomy 10q disorder, end or distal portion of the q (long) arm of the chromosome number 10 appears to be present three times, rather than two times as it is supposed to be. This extra arm results in chromosome 10 trisomy, meaning that three arms are present. Depending on the length of the aberrant arm, the severity can vary from case ...

  7. Acral myxoinflammatory fibroblastic sarcoma - Wikipedia

    en.wikipedia.org/wiki/Acral_myxoinflammatory...

    These abnormalities include: 1) loses in chromosome 3 or chromosome 13; [7] 2) a translocation between the TGFBR3 gene located in band 22.1 on the short (or "p") arm of chromosome 1 and the MGEA5 gene located in band 24 of the long (or "q") arm of chromosome 10; 3) the presence of a ring chromosome that is associated with the overexpression of ...

  8. Chronic myelogenous leukemia - Wikipedia

    en.wikipedia.org/wiki/Chronic_myelogenous_leukemia

    10–19% blasts in the peripheral blood and/or bone marrow; Additional clonal chromosomal abnormalities in Philadelphia (Ph) chromosome-positive (Ph+) cells at diagnosis, including so-called major route abnormalities (a second Ph chromosome, trisomy 8, isochromosome 17q, trisomy 19), complex karyotype, and abnormalities of 3q26.2

  9. Trisomy X - Wikipedia

    en.wikipedia.org/wiki/Trisomy_X

    Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.