Search results
Results from the WOW.Com Content Network
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.
Autosome. This article is about a type of chromosome. For the ancestral discovery method using autosomal DNA, see Genealogical DNA test § Geographic origin tests. An autosome is any chromosome that is not a sex chromosome. [ 1 ] The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex ...
Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [ 1 ] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [ 3 ][ 4 ] Physical features may include a long and narrow face, large ears, flexible fingers ...
The syndrome is diagnosed in an increasing number of children prenatally by amniocentesis and chorionic villus sampling [ 24 ] in order to obtain a chromosome karyotype, where the abnormality can be observed. It is estimated that only 15–20% of children with 47,XYY syndrome are ever diagnosed. Of these, approximately 30% are diagnosed prenatally.
Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [ 1 ] Most eukaryotic species are diploid, meaning they have two sets of chromosomes ...
Trisomy. 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).
A genetic counsellor discussing a pedigree with a client. Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for ...