Some are deadly — about half of all miscarriages are due to chromosomal defects, Hunt said. But some are compatible with live birth, including trisomies such as Down syndrome, Edwards syndrome and Patio syndrome, Hunt said. [livescience.com]

PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd [ghr.nlm.nih.gov]

Failure to thrive, infantile cataracts, mental retardation. Progressive hepatic failure, cirrhosis, death. Galactokinase-deficiency: infantile cataracts are prominent. Treatment: in either case, remove galactose from diet. [kumc.edu]

Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse. Neurofibromatosis (Von Recklinghausen Disease) Autosomal Dominant Disorders Autosomal Dominant. [kumc.edu]

Supported by grants (A-1917 [G.M.] and A-3470 [Path.]) from the Division of Arthritis and Metabolic Diseases, United States Public Health Service, and by an Institutional Grant from the American Cancer Society. We are indebted to Dr. [nejm.org]

[…] and other diseases of the musculoskeletal system and connective tissue Z82.61 Family history of arthritis Z82.62 Family history of osteoporosis Z82.69 Family history of other diseases of the musculoskeletal system and connective tissue Z82.7 Family history [icd10data.com]

[…] including diagnostic tests, consultations with fee-approved specialists and specialist treatment – including radiotherapy and chemotherapy What you're not covered for Chronic conditions We cannot cover incurable long-term illnesses such as diabetes, arthritis [aviva.co.uk]

Urine turns dark and black on standing, ochronosis (dark pigmentation of fibrous and cartilage tissues), ochronotic arthritis, cardiac valve involvement. Disease is generally benign. Homocystinuria Nitrogen Metabolism Defect Autosomal Recessive. [kumc.edu]

Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver. Treatment: Cysteine supplementation, give excess pyridoxine to compensate for lost pyridoxine affinity. [kumc.edu]

As adults, these "super-females" or "metafemales", as they are sometimes known, generally are an inch or so taller than average with unusually long legs and slender torsos but otherwise appear normal. [www2.palomar.edu]

Face Syndrome Conotruncal Anomaly Face Syndrome what is a syndrome characterized by: dysmorphia congenital heart disease autosomal dominant opitz G/BBB what is a syndrome characterized by: laryngotracheoesophageal abnormalities cleft lip and palate hypertelorism [quizlet.com]

[…] microcephaly) accompanied by a prominent back portion of the head (occiput),  Low-set, malformed ears,  Abnormally small jaw (micrognathia),  Cleft lip/cleft palate,  Upturned nose,  Narrow eyelid folds (palpebral fissures),  Widely spaced eyes (ocular hypertelorism [slideshare.net]

Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds. Down Syndrome (Trisomy 21) Chromosomal Trisomy 21, with risk increasing with maternal age. [kumc.edu]

Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. [en.wikipedia.org]

Characteristics Percentage Characteristics Percentage Mental impairment 99% Abnormal teeth 60% Stunted growth 90% Slanted eyes 60% Umbilical hernia 90% Shortened hands 60% Increased skin back of neck 80% Short neck 60% Low muscle tone 80% Obstructive [slideshare.net]

The premutation is also associated with an increased risk of disorders called fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS). [ghr.nlm.nih.gov]

Developmental anomalies Chromosomal anomalies, excluding gene mutations Sex chromosome anomalies LD55 Fragile X chromosome H00465 脆弱Ｘ症候群 特定疾患 (難病) [ jp08407.html ] H00465 パスウェイ hsa03013 RNA輸送 病因遺伝子 FMR1 [HSA: 2332 ] [KO: K15516 ] コメント See also H01731 Fragile X tremor [genome.jp]

[…] dimensions Severe acne in adolescence Behavior and emotional difficulties Learning disabilities and delayed development of speech and language skills Delayed development of motor skills, such as sitting and walking Weak muscle tone (hypotonia), hand tremors [everydayhealth.com]

[…] of cases of this syndrome can be identified by array CGH what type of mutation are most Angelman syndrome cases what syndrome are these consistent with: postnatal microcephaly (80%-by 2 years of age) hypotonia seizures or abnormal EEG (99%) ataxia, tremor [quizlet.com]