Search results
Results From The WOW.Com Content Network
Klinefelter syndrome. Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal ...
Depends on the specific symptoms [3] Frequency. 1 in 4,000 [7] 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 ...
A congenital physical anomaly is an abnormality of the structure of a body part. It may or may not be perceived as a problem condition. It may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully.
Medical genetics. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
Frequency. 1 in 20,000 newborns [1] Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [3][1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [1] Typically, the right side is involved. [3]
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 ...
v. t. e. Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), [2] [3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [4]
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.