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2. Distal trisomy 10q - Wikipedia

   en.wikipedia.org/wiki/Distal_trisomy_10q

   Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. [5] Humans, like all sexually reproducing species, have somatic cells that are in diploid [ 2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies. In humans, there are 23 chromosomes, but ...

3. Aneuploidy - Wikipedia

   en.wikipedia.org/wiki/Aneuploidy

   Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. [ 1][ 2] It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell.

4. Trisomy - Wikipedia

   en.wikipedia.org/wiki/Trisomy

   Trisomy. Example of trisomy 21 detected via qPCR short tandem repeat analysis. Specialty. Medical genetics. A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. [ 1] A trisomy is a type of aneuploidy (an abnormal number of chromosomes).

5. Deletion (genetics) - Wikipedia

   en.wikipedia.org/wiki/Deletion_(genetics)

   Deletion on a chromosome. In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. [ 1]

6. Pfizer's gene therapy cuts hemophilia A bleeding rate in late ...

   www.aol.com/news/pfizers-hemophilia-gene-therapy...

   The data takes Pfizer one step closer to securing U.S. regulatory approval for a second gene therapy to treat hemophilia. Pfizer had received the Food and Drug Administration's nod for Beqvez as a ...

7. Pallister–Killian syndrome - Wikipedia

   en.wikipedia.org/wiki/Pallister–Killian_syndrome

   The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...

8. Tetrasomy - Wikipedia

   en.wikipedia.org/wiki/Tetrasomy

   Full. Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing ( meiosis I or II) to form egg and sperm cells ( gametogenesis ). This can result in extra chromosomes in a sperm or egg cell. After fertilization, the resulting fetus has 48 chromosomes instead of the typical 46.

9. Wolf–Hirschhorn syndrome - Wikipedia

   en.wikipedia.org/wiki/Wolf–Hirschhorn_syndrome

   Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. [ 7] The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1), which is ...