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Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
C2ORF37 (2q22.3–q35) recessive Wolf–Hirschhorn syndrome: 4p16.3: dominant, often de novo 1:50,000 Xeroderma pigmentosum: 15 ERCC4: recessive X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1: ...
The literature is divided on whether autism or autistic features are common, though they have been reported in other X- and Y-chromosome disorders. Behavioural "outbursts" are mentioned by two reviews. [1] [2] [3] X- and Y-chromosome polysomies are both associated with behavioural and psychological sequelae. Because XXXYY syndrome involves both ...
Location of the FMR1 gene on the X chromosome. Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome, most commonly an increase in the number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.
DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone.
When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3]
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).
The second DNA-triplet repeat disease, fragile X-E syndrome, was also identified on the X chromosome, but was found to be the result of an expanded CCG repeat. [6] The discovery that trinucleotide repeats could expand during intergenerational transmission and could cause disease was the first evidence that not all disease-causing mutations are ...