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Defective embryonic formation of the heart results in multiple holes between the heart chambers. In AVSD, all four chambers are connected, but the exact characteristics of holes and malformations may vary between patients. Even within the categories of "complete" and "partial" AVSD, multiple morphologies exist, with varying clinical consequences.
Due to the range in its location, encephaloceles are classified by the location as well as the type of defect it causes. Subtypes include occipital encephalocele, encephalocele of the cranial vault, and nasal encephaloceles (frontoethmoidal encephaloceles and basal encephaloceles), with approximately 80% of all encephaloceles occurring in the ...
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.
Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. [13] Some partial deletions and partial duplications produce birth defects. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):
A breakage and reunion in the pericentric region of the p arm results in a dicentric isochromosome. [4] Some of the p arm can be found in this formation of i(Xq), but a majority of the genetic material on the p arm is lost so it is considered absent.
Males with 48,XXXY are diagnosed anywhere from before birth to adulthood as a result of the range in the severity of symptoms. [3] The age range at diagnosis is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY). [3]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Proximal 18q-is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.This deletion involves the proximal (near the centromere) section of the long arm of chromosome 18 somewhere between 18q11.2 (18.9 Mb) to 18q21.1 (43.8 Mb).