What is Potocki Lupski syndrome?
What is Potocki Lupski syndrome?
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication ) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11. 2. This condition is also known as 17p11. 2 duplication syndrome.
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|
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 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).
Who discovered Potocki Shaffer?
Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts. The deletion of this combination of genes results in several distinctive congenital features, occasional defects in the heart, kidneys, and urinary tract.
Can people with lamb Shaffer syndrome live a normal life?
Life expectancy of individuals with LAMSHF does not seem to be affected.
What does Lamb Shaffer syndrome do?
Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).
What causes Potocki Shaffer syndrome?
Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11. 2. The size of the deletion varies among affected individuals.
Who discovered Russell Silver syndrome?
Henry Silver discovered certain features of Russell-Silver syndrome in 1953. Dr. Alexander Russell discovered additional features of the condition in 1954. For almost 20 years, researchers thought Silver and Russell had found two separate conditions.
Is Lamb Shaffer syndrome fatal?
Life expectancy of individuals with LAMSHF does not seem to be affected. The functional prognosis depends on the severity of intellectual disability.
What causes Lamb Shaffer?
Can you live a normal life with Russell-Silver syndrome?
With appropriate medical care, most individuals with RSS will live full, productive lives. Growth and puberty: Almost all infants with RSS have a birth weight well below the 3rd percentile (<-2SD) even at full term. After birth, weight often continues to fall farther away from the normal range.
Is there a cure for Russell-Silver syndrome?
Russell-Silver syndrome is the result of a genetic change, and there’s no way to prevent the condition. If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about preconception genetic testing.
What is the life expectancy of a child with Wolf-Hirschhorn syndrome?
The median survival time for de novo deletions was 34+ years while for translocation cases it was 18+ years. CONCLUSIONS—The mortality rate is lower than previously reported.
Who is the oldest person with Wolf-Hirschhorn syndrome?
Abstract. Clinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age.
What is the life expectancy of someone with Russell-Silver syndrome?
With appropriate medical care, most individuals with RSS will live full, productive lives. Growth and puberty: Almost all infants with RSS have a birth weight well below the 3rd percentile (<-2SD) even at full term.
Is Russell-Silver syndrome curable?
While a diagnosis of Russell-Silver syndrome can be overwhelming, it’s important to remember children born with the condition generally have a positive prognosis. With early intervention and treatment, Russell-Silver syndrome isn’t a life-threatening condition.