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PURA syndrome. Mutation in the PURA gene, located on Chromosome 5 at 5q31. PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia, failure to thrive, excessive sleepiness, epilepsy, and other anomalies. [1]
Chromosomal Deletion. Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1]). [2] It was first described by Jérôme Lejeune in 1963. [3]
Education is an important part of any treatment plan, and explanation alone often provides sufficient reassurance that no other treatment is necessary. [2] Other conditions, such as attention deficit hyperactivity disorder (ADHD) and obsessive–compulsive disorder (OCD), are more likely to be present among those who are referred to specialty ...
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.
The extra chromosome content can arise through several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. [91] [96] In 1–2.5% of cases, some of the cells in the body are normal and others have trisomy 21, known as mosaic Down syndrome.
XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome ...
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 disorders, occurring in ...
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...