A familial variant of chromosome 9.
نویسندگان
چکیده
منابع مشابه
A familial variant chromosome in the 13-15 group.
Court Brown, Jacobs, and Brunton (1965) carried out a survey on 438 randomly chosen persons and demonstrated that 2 9% of a total of 207 men and 1-3% of a total of 231 women showed variants in their chromosome complements. The criteria they adopted were as follows. (1) That the variant chromosome should be observed in most of the cells. (2) That its presence should be detected in more than one ...
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We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...
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Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
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1. K. Drexler, J. Dannull, I. Hindennach, B. Mutschler, U. Henning, J. Mol. Biol. 219, 655 (1991). 2. E. Haggard-Ljungquist, C. Hailing, R. Calendar, J. Bacteriol. 174, 1462 (1992). 3. H. Sandmeier, S. lida, W. Arber, ibid., p. 3936. 4. D. G. George, L. Yeh, W. C. Barker, Biochem. Biophys. Res. Commun. 115, 1187 (1983); C. J. Michel, B. Jacq, D. G. Argues, T. A. Bickle, Gene 44, 147 (1986). 5. ...
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BACKGROUND Our discovery in 2003 of the first mutations of PCSK9 gene causing autosomal dominant hypercholesterolaemia (ADH) shed light on an unknown factor that strongly influences the level of circulating low density lipoprotein cholesterol (LDL-C). PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are ass...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1971
ISSN: 1468-6244
DOI: 10.1136/jmg.8.2.202