How rare is Potocki-Lupski syndrome?
Frequency. Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. More than 50 affected individuals have been described in the medical literature.
How many people have PTLS?
Potocki-Lupski syndrome (PTLS) is a very rare chromosomal anomaly (1:25.000 people worldwide), resulting from the partial duplication of the short arm of chromosome 17 (17p11.
Is Potocki-Lupski syndrome genetic?
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.
How is Potocki-Lupski Syndrome diagnosed?
Establishing the Diagnosis 2 that encompasses RAI1 [Potocki et al 2000]. Most individuals with PTLS are identified by chromosomal microarray performed in the context of evaluation for hypotonia, failure to thrive, developmental delay, intellectual disability, or autism spectrum disorder.
Is Potocki Lupski Syndrome a disability?
Potocki–Lupski syndrome is considered a rare disease, predicted to appear in at least 1 in 20,000 humans. Symptoms of the syndrome include intellectual disability, autism, and other disorders unrelated to the listed symptoms….
|Other names||17p11.2 microduplication syndrome ,Trisomy 17p11.2|
What are three physical features of someone with Down syndrome?
Other features that are seen in people with Down syndrome (but are not in everyone) include light-colored spots in their eyes (these are called Brushfield spots), a small, somewhat flat nose, a small, open mouth with a protruding tongue, and low-set small ears that may be folded.
How common is Potocki Shaffer syndrome?
Frequency. Potocki-Shaffer syndrome is a rare condition, although its prevalence is unknown. Fewer than 100 cases have been reported in the scientific literature.
What happens if you are missing chromosome 17?
Deletion of a small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.
Why does Down syndrome affect the eyes?
Other common causes of decreased visual acuity in Down syndrome patients include cataracts and high refractive errors. It has also been hypothesized that abnormalities in the development of the visual cortex may further limit visual potential, even in children with relatively mild ocular pathology.
Can getting your tubes tied affect your thyroid?
Conventional doctors may tell you that having your tubes tied won’t affect your hormones, however this couldn’t be further from the truth.
Is PTLS real?
A relatively rare but serious complication of tubal ligation is a condition called Post Tubal Ligation Syndrome (PTLS). PTLS occurs when the blood supply to the ovaries is damaged during the operation to tie the tubes.
What causes Lamb Shaffer syndrome?
Genetics. This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene. This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The gene is located on the short arm of chromosome 12 (12p12).
What is Smith’s Disease?
Collapse Section. Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.