Information de reference pour ce titreAccession Number: | 00019605-200404000-00008.
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Author: | Li, Chumei C. a b; Chodirker, Bernard N. a b; Dawson, Angelika J. a b c; Chudley, Albert E. a b
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Institution: | (a)Department of Pediatrics and Child Health (b)Department of Biochemistry and Medical Genetics, University of Manitoba (c)Cytogenetics Laboratory, Division of Laboratory Medicine and Pathology, Health Sciences Center, Winnipeg, Canada
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Title: | |
Source: | Clinical Dysmorphology. 13(2):95-98, April 2004.
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Abstract: | Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds. Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating and minor skin lesions. We report here a female infant who had a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome. She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with down-turned corner of the mouth and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She has a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype.
Copyright (C) 2004 Wolters Kluwer Health, Inc. All rights reserved
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Author Keywords: | Russell-Silver syndrome; Turner syndrome; hemihypotrophy; mosaicism; chromosome anomaly.
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Language: | English.
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Document Type: | ORIGINAL ARTICLES.
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Journal Subset: | Nursing. Clinical Medicine. Life & Biomedical Sciences.
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ISSN: | 0962-8827
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NLM Journal Code: | byd, 9207893
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