Search results
Results from the WOW.Com Content Network
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.
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 ...
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: ...
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).
Fragile X syndrome is caused by expansion of CGG repeats in the FMR1 gene. In males without fragile X syndrome, the CGG repeat number ranges from 53 to 200 while those affected have greater than 200 repeats of this trinucleotide sequence located at the end of the X chromosome on band Xq28.3.1. [36]
A mysterious illness, which the Africa Centers for Disease Control and Prevention is calling "disease X," has killed at least 31 people — mostly children — in the remote Panzi region of the ...
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
A 2022 statement from the World Health Organization (WHO), defines the term this way: “Disease X is [used] to indicate an unknown pathogen that could cause a serious international epidemic.”