Marfan syndrome is a structural protein gene disorder.
Connective tissue.
Smooth muscle.
A disorder caused by a mutant gene of large effect.
A tendinous xanthoma is a type of xanthoma characterized by the presence of lipid deposits in tendons.
A disorder caused by genome or chromosome mutation.
导致低密度脂蛋白（LDL）在血液中积累，增加胆固醇水平。
A Gaucher cell is a large, lipid-laden macrophage found in individuals with Gaucher disease.
The principle of genetic disorder involves understanding how genetic mutations and abnormalities lead to various diseases.
They lose Apo E and become LDL.
Xanthoma and premature atherosclerosis.
Mitral valve prolapse (floppy valve).
10-20 times more likely.
Rupture of aortic dissection and heart failure.
Marfan syndrome.
A cytogenetic disorder caused by the presence of an extra chromosome 21.
It is commonly found in individuals with Down syndrome and other chromosomal disorders.
Inheritance involving multiple genes of small effect.
Mendelian disorder.
Cholesterol synthesis decreases.
The walls separating the heart chambers and the valves controlling blood flow between them.
45,X
Gaucher disease.
細胞質是細胞內部的一種物質，包含細胞器和其他細胞結構。
A single transverse crease that extends across the palm of the hand.
Environmental factors and genetic factors.
During an aortic dissection, blood flows into the middle layer of the aorta through a tear in the inner layer, causing the layers to separate.
No, individuals with Klinefelter syndrome usually have normal intelligence.
Triglycerides (TG), Cholesteryl Esters (CE), Apo E, B-100, Apo C.
Fragile X syndrome.
Intestinal stenosis.
Down syndrome.
During puberty.
82%
Cystic medionecrosis is a condition characterized by the degeneration of the smooth muscle in the arterial wall, leading to the formation of cyst-like spaces.
Disorders associated with defects in receptor proteins affect cell signaling.
FMR-1 triple repeat amplification.
Familial hypercholesterolemia.
家族性高胆固醇血症。
50-70%
Decreased LDL receptor synthesis.
A type of lysosomal storage disease caused by a defect in an enzyme.
Aortic incompetence, dilatation of the aortic valve, aortic dissection, and rupture of the aorta.
Lipid-laden foamy macrophages.
Gaucher disease.
The expansion of the CGG trinucleotide repeat in the FMR1 gene.
Meiotic nondisjunction.
Low white blood cell function.
Reticuloendothelial system: spleen, liver, bone marrow, lymph nodes.
A disorder associated with defects in receptor proteins.
A cytogenetic disorder characterized by the presence of an extra X chromosome in males (47,XXY).
Genetic and environmental factors.
隔代遺伝とは、ある形質が一世代飛ばして次の世代に現れる現象です。
Simian crease.
Increased FSH, increased estradiol, and decreased testosterone.
Mental retardation and presenile dementia, including Alzheimer disease.
Congenital.
The LDL receptor helps in the uptake of VLDL by hepatocytes.
增加动脉粥样硬化和心血管疾病的风险。
47,XX,+21 (95%).
Cherry-red spot.
Autosomal recessive.
Suspensory ligament and ciliary zonule.
Defect in the synthesis of fibrillin-1.
Intellectual disability.
Fragile X syndrome is a single gene disorder with an atypical pattern of inheritance.
富含弹性纤维的组织是弹性结缔组织。
Disorders associated with defects in enzymes affect biochemical reactions.
It leads to increased DNA methylation of FMR-1 and its promoter.
It binds to Apo CI and breaks down triglycerides.
Flat face, oblique palpebral fissure, and epicanthic fold.
Macroorchidism is a condition characterized by abnormally large testes.
Destruction of neurons and lipid accumulation.
47,XXY
57%
Gaucher cells have a 'crinkled paper' appearance due to the accumulation of glucocerebroside.
46,XX q- and 46,XX p-
Glucocerebroside.
Tall stature with long extremities and spider fingers, hyperextension of the thumb, dolichocephalic (long-headed) with frontal eminence and prominent supraorbital ridge, kyphoscoliosis, pectus excavatum (deeply depressed sternum) or pigeon-breast, and laxation of ligaments in hand and foot.
10-55 CGG repeats.
It impacts vision and can lead to cataracts due to lens degeneration.
Glucocerebrosidase deficiency.
Niemann-Pick disease is a group of inherited metabolic disorders in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.
Three cofactors.
Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
A cytogenetic disorder where females have only one X chromosome (45,X).
Disorders associated with defects in proteins that regulate cell growth affect cell signaling.
隔代遺伝は、遺伝子が潜在的に存在し、次の世代で顕在化することで起こります。
Lysosomal storage diseases and glycogen storage diseases.
Tay-Sachs disease, Niemann-Pick disease, and Gaucher disease.
LDL 受体基因的缺陷。
40%.
Heart failure, pulmonary hypertension, and increased risk of infections.
α-subunit gene mutation on chromosome 15.
Shortness of breath, fatigue, poor growth in infants, and frequent respiratory infections.
Motor and mental deterioration, and blindness.
45,X / 46,XX
46,XX / 47,XX,+21 (1%).
1%
It disrupts biochemical reactions, causing neuronal death.
Pectus Excavatum is a congenital deformity of the chest wall that causes the sternum to be sunken inwards.
A defect in structural protein.
The presence of 'onion skin' layers in lysosomes.
The liver and heart.
Infection.
Yes, a disease can be both hereditary and congenital, but it can also be just one of them.
It causes transcriptional suppression of FMR-1.
The formation of tendinous xanthomas is caused by the accumulation of cholesterol and other lipids in the tendons.
はい、隔代遺伝は後代に現れる可能性があります。
Triglycerides (TG), Cholesteryl Esters (CE), Apo E, B-100.
Long face, large mandible, large elevated ears, and macroorchidism.
Microglia proliferation.
FBN1 gene.
HMG CoA reductase.
Chromosome 15q21.
Autosomal dominant, autosomal recessive, and X-linked.
Glucose-6-phosphatase deficiency.
55-200 repeats (premutation).
Common physical features include short stature, webbed neck, low-set ears, and a broad chest with widely spaced nipples.
Glucocerebroside.
A deficiency in the enzyme sphingomyelinase.
15-30%.
Defects in receptor proteins.
'Hereditary' means familial, derived from parents, and transmitted in the germ line.
弹性纤维的主要功能是提供组织的弹性和柔韧性。
No, it can also be found in some healthy individuals.
They are most commonly found in the Achilles tendon and the tendons of the hands.
Ballooning with cytoplasmic vacuole and fat stain (+).
Umbilical hernia.
Apo CI
The reticuloendothelial system, specifically macrophages.
Simian crease (断掌).
Enlarged testes, a common feature in Fragile X syndrome.
Intestinal stenosis (狹窄).
It follows the mRNA complex to the axon spine to regulate its translation.
A disorder associated with defects in enzymes that affect glycogen metabolism.
A deficiency in the enzyme hexosaminidase A.
Examples of cytogenetic disorders include Down syndrome, Klinefelter syndrome, and Turner syndrome.
It can form an aortic aneurysm, which may rupture and cause hemorrhagic shock or hypovolemic shock.
A genetic disorder caused by mutations in a single gene that does not follow the typical Mendelian inheritance patterns.
It is a disorder affecting the liver and muscles, characterized by the inability to convert glycogen to glucose due to a deficiency in the enzyme glucose-6-phosphatase (G6Pase).
Autosomal dominant.
細胞核被擠到一旁。
'Congenital' means 'born with' and refers to diseases that are present at birth.
弹性纤维主要存在于皮肤、肺、动脉壁等部位。
Eunuchoid body, increased body length, long legs, small atrophic testes, small penis, lack of secondary male characteristics.
はい、隔代遺伝は特に男性に多く見られることがあります。
Onion-skin pattern.
Cystic medionecrosis of the ascending aorta.
Fragile X Syndrome.
Gynecomastia is the development of breast tissue in males, and it is a common feature of Klinefelter syndrome.
Endocardial cushion defect.
Cholesteryl Esters (CE), B-100.
Bilateral subluxation or dislocation of the lens.
Triplet repeat mutation in the FMR-1 gene on Xq27.3.
It causes the axon spine to overproduce protein neurotransmitters, leading to neurological issues.
Mutation of the glucocerebrosidase gene on chromosome 1q21.
Mitotic nondisjunction.
Pectus excavatum.
Dorsum of hand & foot, nape.
Fragile Mental Retardation Protein (FMRP).
Marfan Syndrome is a genetic disorder that affects the body's connective tissue.
Pathological fractures.
Receptor protein is absent.
Yes, it can be traced through family history.
A group of inherited disorders that affect glycogen metabolism, leading to the accumulation or deficiency of glycogen in tissues.
Disorders associated with defects in structural proteins affect the structure of cells and tissues.
Aortic dissection is a condition where there is a tear in the inner layer of the aorta, allowing blood to flow between the layers of the aortic wall.
Cancer, peptic ulcer, diabetes mellitus (DM), and atherosclerosis.
It results in the absence of FMRP (Fragile X Mental Retardation Protein).
A congenital heart defect involving the walls separating the heart chambers and the valves controlling blood flow between them.
Tendinous xanthomas can be diagnosed through physical examination and imaging studies such as ultrasound or MRI.
Infertility.
Hexosaminidase A.
A type of lysosomal storage disease caused by a defect in an enzyme.
Ectopia lentis.
A type of lysosomal storage disease caused by a defect in an enzyme.
Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
Examples of enzyme protein gene disorders include Tay-Sachs disease, Niemann-Pick disease, Gaucher disease, and Glycogen storage disease.
A macrophage.
Cherry-red spot.
Organs become enlarged and stained red.
200-4000 repeats (full mutation).
A combination of kyphosis (forward rounding of the back) and scoliosis (sideways curvature of the spine).
All body cells except nerve cells.
Chromosome 19.
The typical chromosomal pattern in Turner syndrome is 45,X, meaning there is only one X chromosome instead of two sex chromosomes.
The FMR1 gene.
Receptor protein is trapped in the endoplasmic reticulum (ER).
A chromosomal disorder is a disease caused by abnormalities in chromosome number or structure.
Fibrillary cytoplasm (crumpled tissue paper) of macrophage.
Familial hypercholesterolemia is a receptor protein gene disorder.
PAS (+).
Ballooning and vacuolation of neurons.
It is rich in smooth muscle and elastic fibers but undergoes degeneration.
Dolichocephalic.
The microfibrillary network.
Autosomal dominant with one dominant and one recessive allele.
Sphingomyelin.
Preductal coarctation of the aorta.
Pectus Excavatum is typically diagnosed through physical examination and imaging tests such as chest X-rays or CT scans.
The main types of genetic disorders include single gene disorders, chromosomal disorders, and complex disorders.
The 5' end and upstream promoter of the FMR-1 gene become abnormally methylated, causing transcriptional suppression.
5-6 times the normal plasma level.
It impairs the liver's ability to rapidly supply glucose to the blood.
Cystic fibrosis is an example of a single gene disorder.
The Achilles tendon.
Autosomal dominant inheritance occurs when a single copy of a mutated gene from one parent is sufficient to cause the disorder.
Sphingomyelin is a type of sphingolipid primarily found in animal cell membranes, especially in the myelin sheath of nerve cells.
造成肌紅蛋白尿的原因包括外傷、缺血、某些藥物及遺傳性疾病等。
Fat stain (+).
46,XY / 47,XXY and 47,XXY / 48,XXXY
Ganglioside.
GM2 ganglioside.
Turner syndrome is a chromosomal disorder affecting females, where one of the X chromosomes is missing or partially missing.
Muscle phosphorylase deficiency.
Central neurons and retinal neurons.
Autosomal dominant.
Genetic disorders are diseases caused by abnormalities in an individual's DNA.
The main types are Type A, Type B, and Type C.
An abnormal protrusion of the sternum.
Glucose-6-phosphatase (G6Pase).
The altered gene is located on the X chromosome.
Decreased LDL binding.
FMRP 參與調節 mRNA 的翻譯，影響蛋白質的合成，這對於神經元的發育和功能至關重要。
Lymphedema that stretches the skin, which later forms folds.
It affects approximately 1 in 4,000 males and 1 in 8,000 females.
脆性 X 綜合症。
Treatments may include testosterone replacement therapy, speech and physical therapy, educational support, and fertility treatment options.
與神經系統的正常運作密切相關。
Liver and spleen.
48,XXXY and 49,XXXXY
Symptoms include muscle weakness, loss of motor skills, and seizures.
It is similar to Tay-Sachs disease but appears throughout the body in Niemann-Pick disease.
Maternal age.
Autosomal recessive.
Fragile X Syndrome is primarily caused by a mutation in the FMR1 gene on the X chromosome.
Fragile X Syndrome is a genetic disorder caused by a mutation in the FMR1 gene on the X chromosome.
Tendinous xanthoma and atherosclerosis in adulthood.
Muscle cramps, glycogen accumulation in muscles, and myoglobinuria.
FMRP（Fragile X Mental Retardation Protein）。
在神經系統的發展和功能中扮演重要角色，特別是在突觸的可塑性和學習記憶方面。
Failure in recycling of the LDL receptor.
pH-dependent dissociation.
It plays an important role in cell membrane structure and participates in various signal transduction pathways.
當肌肉細胞受損時，肌紅蛋白會釋放到血液中，並最終��過腎臟排泄到尿液中，導致尿液呈現深茶色或棕色。
Autosomal dominant.
Most are miscarried.
It impairs hematopoietic function.
Common symptoms include chest pain, difficulty breathing, and reduced exercise tolerance.
Turner syndrome is diagnosed through a karyotype test, which analyzes the chromosomal composition of an individual.
No, it can be present or absent (±).
Treatment options include physical therapy, exercises, and surgical procedures like the Nuss or Ravitch procedure.
A single gene disorder is a disease caused by mutations in a single gene.
It can cause aortic enlargement, which may lead to aortic dissection or rupture.
Infantile-type female genitalia, little pubic hair, streak ovary, amenorrhea, and infertility.
Sphingomyelinase deficiency.
It is a very large gene.
There is no cure, but treatments can help manage symptoms and reduce the risk of complications.
CGG 重複序列的擴增。
Ligament, aorta, and ciliary zonule.
Health complications can include heart defects, kidney problems, and infertility.
Cardiomegaly.
Because the gene does not undergo unequal separation during egg formation.
The FBN1 gene, which encodes the protein fibrillin-1.
While there is no cure for Turner syndrome, treatments can help manage symptoms and complications. These may include growth hormone therapy, estrogen replacement therapy, and fertility treatments.
Yes, Pectus Excavatum can be associated with genetic conditions such as Marfan Syndrome and other connective tissue disorders.
Skin xanthoma and atherosclerosis in adolescence.
Klinefelter syndrome often results in reduced fertility or infertility due to low testosterone levels and impaired sperm production.
Klinefelter syndrome is typically diagnosed through a karyotype test, which analyzes the number and structure of chromosomes.
Folding errors.
It fails to function properly, leading to issues with LDL binding and internalization.
因為大量肌紅蛋白進入血液可能會對腎臟造成損害，導致急性腎損傷。
Acid maltase deficiency.
Accumulation of macrophages leads to surrounding bone invasion.
Connective tissue rich in elastic fibers.
Glycogen accumulation in the liver, leading to hepatomegaly and hypoglycemia.
It is one of the skeletal abnormalities indicating ligament laxity.
SHOX gene on Xp22.33.
Failure to localize in coated pits, leading to impaired internalization.
FMRP 在突觸可塑性中起重要作用，這是學習和記憶的基礎。
Genetic disorders can be inherited in various patterns, including autosomal dominant, autosomal recessive, and X-linked inheritance.
Underdeveloped reproductive system, leading to amenorrhea and infertility.
The FMR1 gene produces a protein called FMRP, which is important for normal neural development.
肌紅蛋白尿的常見症狀包括腹痛和肌肉疼痛、尿液顏色變深，可能伴隨發燒、噁心等全身症状。
Fragile X Syndrome is an example of a single gene disorder with an atypical pattern of inheritance.
The liver and muscles.
One copy of the altered gene in each cell is sufficient to cause the disorder.
The mutation involves an expansion of the CGG trinucleotide repeat, which silences the FMR1 gene and disrupts the production of the FMRP protein.
Decreased breast development and widely-spaced nipples.
Klinefelter syndrome is a genetic condition where a male is born with an extra X chromosome (XXY).
Common physical characteristics include taller than average height, reduced muscle mass, reduced facial and body hair, and enlarged breast tissue.
Sphingomyelin.
遺傳性智力障礙，伴隨社交互動和行為問題。
The mutation leads to a lack of FMRP protein, which disrupts normal neural development and function.
肌紅蛋白尿是指尿液中出現肌紅蛋白，通常由於橫紋肌溶解或肌肉損傷所引起。
Laxation of ligaments in the hand and foot, and loss of ligament elasticity.
Symptoms are present throughout the body, including the nervous system.
Two copies of the altered gene in each cell are necessary to cause the disorder.
Common symptoms include intellectual disability, behavioral and learning challenges, and various physical characteristics such as an elongated face and large ears.
The X chromosome.
Common symptoms include intellectual disability, behavioral and learning challenges, and various physical characteristics such as a long face, large ears, and flexible fingers.
Down syndrome is an example of a chromosomal disorder.
Cardiologists, ophthalmologists, and orthopedic surgeons.
A CGG trinucleotide repeat expansion in the FMR1 gene.
Phosphocholine and ceramide.
Enzyme deficiencies, such as in Niemann-Pick disease.
2-3 times the normal plasma level.
Because skeletal muscles do not have the enzyme glucose-6-phosphatase (G6Pase).
X 染色體。
Tall stature, long limbs, and fingers (arachnodactyly), and a curved spine (scoliosis).
Turner syndrome occurs in about 1 in 2,500 live female births.
Lens dislocation (ectopia lentis) and an increased risk of retinal detachment.
It is inherited in an X-linked dominant pattern.
Individuals with Klinefelter syndrome may experience learning disabilities, delayed speech and language development, and difficulties with executive functioning.
It regresses to form the ligamentum arteriosum.
Hepatosplenomegaly, lymphadenopathy, skin xanthoma, failure to thrive, vomiting, fever, psychomotor dysfunction.
Autosomal recessive inheritance occurs when two copies of a mutated gene, one from each parent, are necessary to cause the disorder.
Approximately 85%.
Symptoms include hepatosplenomegaly, neurological decline, and respiratory issues.
Most patients die within 2 years due to cardiorespiratory failure.
Individuals with Turner syndrome may experience learning disabilities, particularly in spatial reasoning and mathematics, as well as social adjustment difficulties.
A lipid deposit in the skin, commonly seen in homozygotes with familial hypercholesterolemia.
Males have only one X chromosome, so a single mutated FMR1 gene can cause the full syndrome, whereas females have two X chromosomes, which can mitigate the effects.
Early death within 3 years.
肌紅蛋白的主要功能是儲存氧氣。
A lipid deposit in tendons, commonly seen in familial hypercholesterolemia.
It is inherited in an autosomal dominant pattern.
High levels of plasma cholesterol.
X-linked inheritance involves mutations in genes on the X chromosome, often affecting males more severely.
Cell growth, differentiation, and apoptosis.
肌紅蛋白尿的治療通常需要住院治療並進行靜脈補液，以促進尿液排出，防止腎臟損傷。
