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XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
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).
Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. [4] They can be caused by various environmental factors.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
G-banding, G banding or Giemsa banding is a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes. It is the most common chromosome banding method. [1] It is useful for identifying genetic diseases (mainly chromosomal abnormalities) through the photographic representation of the entire chromosome ...
Chromosomal abnormalities that lead to disease in humans include Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47,XXY, is caused by an extra X chromosome. Edwards syndrome is caused by trisomy (three copies) of chromosome 18.
In a systematic review including two prospective studies of 47,XYY boys identified by newborn screening programs and one retrospective study of 47,XYY men identified by screening men over 184 cm (6 ft 1 ⁄ 2 in) in height, forty-two 47,XYY boys and men had an average 99.5 verbal IQ and 106.4 performance IQ. [16] [18] [19] [20]
Individual gene defects can be associated with specific symptoms which can help in identifying which genes to test for. [8] [3] Between 35 and 45% of cases of KS/CHH have an unknown genetic cause. [28] The ANOS1 gene defect (previously known as KAL-1) was the first one discovered and the one most commonly tested for.
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