Holt oram syndrome presentation
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Holt-Oram syndrome is a rare genetic condition caused by mutations in the TBX5 gene on chromosome 12. It is characterized by abnormalities in skeletal development that cause deformed limbs, as well as heart defects. Specifically, it affects the development of the upper limbs and heart during embryonic development. Treatment is customized to each individual case and involves monitoring and care from a team of specialists.
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- Management depends on chorionicity and gestation. Dichorionic twins can often be monitored until 34 weeks, while monochorionic twins require frequent scans and delivery may be sooner given risks of complications for the surviving twin like brain injury.
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Pseudohypoparathyroidism is characterized by peripheral resistance to parathyroid hormone rather than a deficiency, causing hypocalcemia and hyperphosphataemia. There are three main types - 1a, 1b, and 2 - which are all heterozygous genetic conditions involving haploinsufficiency of the GNAS1 gene. Type 1a is associated with short stature, round face, soft tissue calcification, and developmental delays. The molecular defect is in the GNAS1 gene which encodes the Gsa protein involved in several hormone signaling pathways. Types 1b and 2 also involve GNAS1 defects but have different clinical presentations and endocrinological effects.
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1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
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Chromosomes determine an organism's hereditary traits and are composed of DNA and proteins located within cells. They can be described based on features of their centromere placement and arm length ratios. Karyotyping involves analyzing an individual's full set of chromosomes to identify any abnormalities in number or structure that may be associated with developmental or medical conditions. Several chromosomal disorders result from mutations involving the sex chromosomes or autosomes, leading to characteristic physical and developmental phenotypes.
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A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Karyotyping involves analyzing an individual's chromosomes to identify any abnormalities in number or structure that may cause health issues. Several chromosomal disorders exist due to extra, missing, or rearranged chromosomes, including Klinefelter syndrome, Turner syndrome, Down syndrome, and Angelman syndrome. These disorders are characterized by distinct physical and cognitive traits.
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A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples discussed include trisomies like Down syndrome, monosomies like Turner syndrome, and deletions or duplications of chromosome segments. Structural aberrations alter chromosome structure and include translocations, inversions, and deletions. Specific disorders result from defects in certain chromosomes.
Human Chromosomes and Chromosome Behavior
A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features of their centromere and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples of abnormalities discussed include trisomies, where an additional chromosome is present, and structural aberrations involving deletions, duplications, inversions or translocations of chromosomal segments. Specific disorders arise from defects in sex chromosomes like Klinefelter syndrome or autosomal chromosomes such as Down syndrome, Edward syndrome, and Patau syndrome.
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Holt oram syndrome presentation
- 1. Chromosome 12: Holt-Oram Syndrome Bri Whalen
- 2. What is Holt- Oram Syndrome? Abnormalities in skeletal development gives presentation of deformed limbs (arms and hands). This syndrome also severally affects the cardiovascular system, particularly the shape or beat of the heart. This syndrome affects approximately 1 out of every 100,000 births.
- 3. What causes Holt-Oram Syndrome? • As an autosomal dominant trait, it is genetically inherited by only one of the parents with the mutated gene; unlike most inherited dominant genes that need to come from both parents. • Mutations in the TBX5 gene on chromosome 12 cause Holt-Oram Syndrome.
- 4. What’s the TBX5 gene? When it is functioning properly, the TBX5 gene provides the instructions for making tissues and organs when the embryo is still developing during pregnancy. When it is mutated, tissues and organs (in particular, the heart and upper limbs) develop abnormally—this is Holt-Oram Syndrome.
- 5. How can Holt-Oram Syndrome be treated? Treatment of Holt-Oram syndrome goes on a case-by-case basis, given different severities of the syndrome. Typically a team of different specialty doctors (cardiologists, geneticists, orthopedic surgeons, etc.) is assembled to monitor and treat patients.
- 6. References http://ghr.nlm.nih.gov/condition/holt-oram-syndrome http://rarediseases.info.nih.gov/gard/6666/holt-oram-syndrome/resources/9 http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm http://emedicine.medscape.com/article/159911-overview#a0104