What is Koolen de Vries?
What is Koolen de Vries?
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood.
What is the 17th chromosome responsible for?
Human chromosome 17 is implicated in a wide range of human genetic diseases. It is home to genes involved in early-onset breast cancer (BRCA1), neurofibromatosis (NF1) and the DNA damage response (TP53 encoding the p53 protein).
What does 17q21 mean?
Koolen–De Vries syndrome (KdVS), also known as 17q21. 31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups.
What is floating Harbour syndrome?
Collapse Section. Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features.
What type of chromosome is 17?
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome….
| Chromosome 17 | |
|---|---|
| No. of genes | 1,124 (CCDS) |
| Type | Autosome |
| Centromere position | Submetacentric (25.1 Mbp) |
| Complete gene lists |
What is chromosome 17q21 31 deletion syndrome?
See also chromosome 17q21.31 deletion syndrome (610443). Kirchhoff et al. (2007) reported a 10-year-old Moroccan girl with severe psychomotor delay who was found to have a de novo duplication at the chromosome 17q21.31 deletion syndrome locus. She had facial dysmorphism, short stature, microcephaly, abnormal digits, and hirsutism.
What is the pathophysiology of chromosome 17q21 duplication?
The duplication was paternally inherited and derived from meiotic recombination of paternal H1 and H2 haplotypes in the 17q21.31 chromosomal region (see MAPT; 157140 ). The duplication was believed to result from nonallelic homologous recombination (NAHR) between the 2 alleles.
What is the prevalence of 17q11 microdeletion syndrome?
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. The prevalence of 17q11 microdeletion syndrome is not known.
How common is trisomy 21 in Down syndrome?
Babies with Down syndrome however, end up with three chromosomes at position 21, instead of the usual pair. Other examples of trisomies occur at position 13 and 18. Trisomy 21 is the most common of the three, occurring in 1 out of every 691 births.
