Sức Khỏe và Bệnh Tật - Rối loạn di truyền
Tại đây bạn sẽ học một số từ tiếng Anh liên quan đến rối loạn di truyền như "albinism", "hemophilia" và "dystrophy".
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Đố vui
a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
hội chứng Marfan
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
u xơ thần kinh
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
hội chứng Noonan, noonanism
a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15
hội chứng Prader-Willi, hội chứng Prader và Willi
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
hội chứng Rett
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
bệnh Tay-Sachs, rối loạn Tay-Sachs
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
thalassemia
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
hội chứng Tourette, hội chứng Tourette (tics)
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
bệnh bạch tạng
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
hội chứng Angelman, hội chứng Angelman (rối loạn di truyền hiếm)
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
viêm khớp cột sống dính khớp, viêm khớp viêm mãn tính
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
Hội chứng Apert, Hội chứng Apert (rối loạn di truyền)
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
bệnh Charcot-Marie-Tooth, hội chứng Charcot-Marie-Tooth
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
bệnh phì đại vỏ thượng thận bẩm sinh, tăng sản thượng thận bẩm sinh
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
xơ nang, xơ nang
a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues
hội chứng Down, trisomy 21
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
hội chứng Ehlers-Danlos, bệnh Ehlers-Danlos
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
bệnh Fabry, fabryosis
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
hội chứng Fragile X, hội chứng nhiễm sắc thể X mỏng manh
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
bệnh máu khó đông
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
huyết sắc tố sắt
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
hội chứng Klinefelter, hội chứng Klinefelter (tình trạng di truyền)
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
hội chứng Turner, hội chứng Turner (tình trạng di truyền)
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
bệnh von Willebrand, thiếu hụt yếu tố von Willebrand
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
hội chứng Williams
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
bệnh Huntington, chorea Huntington
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
bệnh hồng cầu hình liềm, drepanocytosis
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
distrophy, bệnh loạn dưỡng cơ