Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.
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PMID:Partial trisomy 22: a recognizable syndrome. 89 Oct 9

Cat's eye syndrome is a very rare disease with many congenital anomalies. Until the end of 1983, 35 cases had been reported, but only 5 cases were associated with cleft palate, and only 1 patient was operated on. A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome. The patient did not have anal atresia, preauricular skin tags, microphthalmia, depressed nasal bridge, or renal or skeletal anomalies. The operation was performed on his cleft soft palate when he was 2.5 years old.
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PMID:Cat's eye syndrome with cleft soft palate. 385 14

We have studied 32 unrelated families with a site-specific reciprocal translocation between chromosomes 11 and 22 [t(11;22) (q23;q11)]. In translocation heterozygotes 3:1 meiotic segregation occurs and results in abnormal progeny who carry the der(22) as a supernumerary chromosome. Phenotypic findings consistent with 47,XX (or XY), +der(22), t(11;22) include mental retardation, preauricular skin tag and/or sinus, ear anomaly, palate anomaly, micrognathia, congenital heart disease, and genital anomalies in males. The frequency of abortions among offspring of male and female heterozygotes is increased. Segregation analysis shows that the risk of unbalanced offspring to be born to female heterozygotes may be as high as 10%, and that there may be a significant risk to male heterozygotes as well. The overall carrier frequency among progeny of 11;22 translocation carriers is 70.6%. The occurrence of multiple 11;22 translocation events is supported by de novo occurrence of translocation, familial heteromorphic variants of the der(22), and varied racial and ethnic backgrounds of the families. To our knowledge, with the exclusion of centric fusion translocations, this represents the only example of nonrandom exchange in a constitutional chromosomal rearrangement.
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PMID:Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. 721 60

A 35-year-old obese man presented with a chief complaint of hand dryness of 5 years' duration. He was a store manager and denied exposure to chemicals, repetitive trauma, chronic irritation, and hard manual labor. However, he did admit to frequent hand washing. He had no itching or swelling in his hands, but on occasion he had tenderness in the dry areas. He had no personal or family history of diabetes, heart disease, or renal disease, and he stated that at his annual physical examination 6 months earlier, routine blood work was normal. He reported polyuria (every 2 hours), nocturia (five times per night), and polydipsia but no weakness, weight loss, visual changes, or neurosensory changes. Examination revealed xerosis of his hands and "pebbles" on the dorsal aspect of his fingers. The papules were most dense over the knuckles and interphalangeal joints (figures 1 through 3). He also had dozens of acrochordons (i.e., cutaneous papillomas, or skin tags) 1 to 4 mm in diameter on his neck, axilla, and groin. No other cutaneous lesions were noted. Specifically, there was no scleredema adultorum, necrobiosis lipoidica diabeticorum, acanthosis nigricans, bullae, or patchy pretibial pigmentation, although he did have several brown macules 1 to 5 mm in diameter on the sides of his lower legs. The macules had been present for years. Levels of hemoglobin A1c and glycated hemoglobin were 7.5% and 9.5%, respectively (normal, 4.4% to 5.9% and 5.0% to 7.3%). The patient was referred to his family physician, and his diabetes has been well controlled with insulin.
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PMID:Finger 'pebbles'. A dermatologic sign of diabetes mellitus. 1072 45