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Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

, : Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genetics in Medicine 10(8): 599-611

Purpose: Deletions of distal 9p are associated with trigonocephaly, mental retardation, dysmorphic facial features, cardiac anomalies, and abnormal genitalia. Previous studies identified a proposed critical region for the consensus phenotype in band 9p23, between 11.8 Mb and 16 Mb from the 9p telomere. Here we report 10 new patients with 9p deletions; 9 patients have clinical features consistent with 9p- syndrome, but possess terminal deletions smaller than most reported cases, whereas one individual lacks the 9p- phenotype and shows a 140-kb interstitial telomeric deletion inherited from his mother. Methods: We combined fluorescence in situ hybridization and microarray analyses to delineate the size of each deletion. Results: The deletion sizes vary from 800 kb to 12.4 Mb in our patients with clinically relevant phenotypes. Clinical evaluation and comparison showed little difference in physical features with regard to the deletion sizes. Severe speech and language impairment were observed in all patients with clinically relevant phenotypes. Conclusion: The smallest deleted region common to our patients who demonstrate a phenotype consistent with 9p- is <2 Mb of 9pter, which contains six known genes. These genes may contribute to some of the cardinal features of 9p deletion syndrome.


PMID: 18641517

DOI: 10.1097GIM.0b013e31817e2bde

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Tresch, D.D., 2001: Evaluation and management of cardiac arrhythmias in the elderly. Cardiac arrhythmias are common in elderly patients. Complete evaluation with detection of underlying structural heart disease and comorbidities is necessary. Prognosis is dependent on the presence of underlying heart disease, particularly the degr...

Karwinski, W.; Soreide, O., 1997: Allopurinol improves scavenging ability of the liver ischemia/reperfusion injury. Deterioration of energy metabolism and oxidative stress represent fundamental mechanisms in ischemia and reperfusion injury. In a normothermic ischemia/reperfusion rat model, we investigated whether allopurinol (ALL) may improve the scavenging abi...

Chiarasini, D.; Barbet, J.P.; Copin, H.; Maillet, M.; Pompidou, A., 1992: Scanning electron microscopy of femoral ossification in the human foetus. The ossification of human femoral bone was studied in 10 fetuses aged from 8 to 40 weeks, and in a 3 1/2 month-old child. After dissection and radiographic examination, each femur was sectioned in a sagittal plane. One part was processed for routi...

Peltier, S.J.; Polk, T.A.; Noll, D.C., 2003: Detecting low-frequency functional connectivity in fMRI using a self-organizing map (SOM) algorithm. Low-frequency oscillations (<0.08 Hz) have been detected in functional MRI studies, and appear to be synchronized between functionally related areas. A current challenge is to detect these patterns without using an external reference. Self-orga...

Cuttica, F.; Piiper, J.; Mangili, F.; Cerretelli, P., 1965: The role of the lactic acid anaerobic mechanism as a source of energy during work in normal and hypoxic dogs. Bollettino Della Societa Italiana di Biologia Sperimentale 41(24): 1558-1560

Konstantinov, K.G., 1969: Effect of natural factors and fishing on the abundance of groundfish in northern seas. Trudy vses. nauchno-issled. Inst. morsk. ryb. Khoz. Okeanogr.: 67: 166-170

Gomes, H.L.; Menezes, T.N.; Carnielli, J.B.T.; Andrich, F.; Evangelista, K.S.; Chávez-Olórtegui, C.; Vassallo, D.V.; Figueiredo, S.G., 2011: Stonefish antivenom neutralises the inflammatory and cardiovascular effects induced by scorpionfish Scorpaena plumieri venom. Venomous fish are often involved in human accidents and symptoms of envenomation include local (intense pain and swelling) and systemic effects (cardiovascular and neurological disorders). However the only commercially available antivenom is again...

Hughes, S.J., 1951: Studies on micro-fungi. IX. Calcarisporium, Veriicicladium, and Hansfordia (gen. nov.). The author redescribes from pure cultures and herbarium material the type species of Calcarisporium and Verticicladium, C. arbuscula and V. trifldum, respectively; the former grows on Dasyscypha and other fungi and the latter on dead Pinus sylvest...

Fairman, K.A.; Rucker, M.L., 2009: Fractal mathematics in managed care? How a simple and revealing analysis could improve the forecasting and management of medical costs and events. Journal of Managed Care Pharmacy 15(4): 351-358

Utley, P.R.; Hellwig, R.E.; McCormick, W.C., 1975: Finishing beef cattle for slaughter on all-forage diets. In a series of trials over a 4-year period, a total of 68 crossbred bullocks, 32 calves of average weight 223, and 36 yearlings, average 306 kg, were fed on a high-energy diet or an all-forage diet. The high-energy diet included 72.8% ground shell...