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Small supernumerary marker chromosomes 1 with a normal phenotype


, : Small supernumerary marker chromosomes 1 with a normal phenotype. Journal of the Chinese Medical Association 73(4): 205-207

Small supernumerary marker chromosomes (sSMCs) are a major problem in prenatal cytogenetic diagnostics. Over two-thirds of cases carrying an sSMC derived from chromosome 1 are associated with clinical abnormalities. We report 3 further cases of such sSMCs that did not show any clinical abnormalities. All 3 sSMCs studied were detected prenatally and characterized comprehensively for their genetic content by molecular cytogenetics using subcentromere-specific multicolor fluorescence in situ hybridization, and for a possibly associated uniparental disomy. After exclusion of additional euchromatin due to the presence of sSMCs and a uniparental disomy, parents opted for continuation of the pregnancies and healthy children were born in all 3 cases. It is important to quickly and clearly characterize prenatal sSMCs. Also, all available sSMC cases need to be collected on a homepage such as the Jena Institute of Human Genetics and Anthropology sSMC homepage (http://www.med.uni-jena.de/fish/sSMC/00START.htm).

US$19.90

PMID: 20457442

DOI: 10.1016/S1726-4901(10)70042-3


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Gibson, H.L., 2011: Depth of field in medical photography. Radiography and Clinical Photography 22(1): 22-28

LaHaye, N.L.; Harilal, S.S.; Diwakar, P.K.; Hassanein, A.; Kulkarni, P., 2013: The effect of ultrafast laser wavelength on ablation properties and implications on sample introduction in inductively coupled plasma mass spectrometry. NlmCategory="UNASSIGNED">We investigated the role of femtosecond (fs) laser wavelength on laser ablation (LA) and its relation to laser generated aerosol counts and particle distribution, inductively coupled plasma-mass spectrometry (...

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Bilgen, S.; Türkmen, N.; Eren, Bülent.; Fedakar, R., 2009: Peripheral vascular injury-related deaths. Peripheral vascular injuries are frequently encountered in lethal and nonlethal trauma. Although significant improvements in treatment have been achieved, such injuries are still important causes of mortality. In this study, the records of 6769 au...

Hilgenberg, A.D., 1999: Spinal cord protection for thoracic aortic surgery. Spinal cord protection is critical for successful outcomes after descending thoracic and thoracoabdominal aortic aneurysm repair. For descending thoracic aneurysms which end above T9, optimum protection is maintained by distal aortic perfusion via...

Jung, J.M.; Baek, G.H.; Kim, J.H.; Lee, Y.H.; Chung, M.S., 2001: Changes in ulnar variance in relation to forearm rotation and grip. We studied radiographs of the wrists of 120 healthy volunteers in order to determine the normal range of ulnar variance. They had been taken in various positions under both unloaded (static) and loaded (dynamic) conditions. Pronation posteroanteri...

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Conover, C.A.; Baker, B.K.; Hintz, R.L., 1989: Cultured human fibroblasts secrete insulin-like growth factor IA prohormone. Nucleotide sequencing of the two known cDNAs encoding human insulin-like growth factor I (IGF-I) predicts the existence of two different prohormone forms of IGF-I. The E peptide regions extend the carboxy-terminus of IGF-I by either an additional...

Dortmann A.; Haupt H., 1968: Peri natal hemorrhages and shock syndrome in new borns. Archiv fuer Kinderheilkunde 177(2): 131-138