What is chromosome Xp22?
Abstract. The Xp22. 31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment.
What is chromosome Xp22 3?
3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation. Gene.
What Xp22 33?
Xp22.33. 807 kb. delayed speech and language development, intellectual disability, short stature. SHOX, CRLF2, CSF2RA.
What does chromosome 14q mean?
Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
Is Turner syndrome caused by deletion?
INTRODUCTION. Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete deletion of one of the X chromosomes [1].
Where is the SHOX gene located?
One copy of the SHOX gene is located on each of the sex chromosomes (the X and Y chromosomes) in an area called the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both chromosomes.
What do you understand by chromosomes?
(KROH-muh-some) A structure found inside the nucleus of a cell. A chromosome is made up of proteins and DNA organized into genes. Each cell normally contains 23 pairs of chromosomes.
What does SHOX gene stand for?
SHOX is a gene (short stature homeobox-containing gene), which plays an important role in bone growth and development.
How common is SHOX?
Conclusions. SHOX deficiency is frequently found (2–15%) in individuals with formerly idiopathic short stature, causes Leri-Weill syndrome (dyschondrosteosis) in the majority of cases, and is involved in the short stature phenotype of Turner syndrome.
What are symptoms of ring 14?
A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
Is ring 14 chromosome syndrome a genetic disorder?
SUMMARY. Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder. Only about 80 cases have been described since it was first reported in 1971.