Gulati, R. ; Phadke, S. R. ; Agarwal, S. S. (1997) Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? Journal of Medical Genetics, 34 (11). pp. 937-938. ISSN 0022-2593
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Official URL: http://jmg.bmj.com/content/34/11/937
Related URL: http://dx.doi.org/10.1136/jmg.34.11.937
Abstract
Meckel syndrome is an inherited autosomal recessive disease. A family is described in which four persons had minor malformations related to the syndrome, suggesting the possibility of manifesting heterozygotes. It is uncertain whether these malformations represent partial expression of the disease or are coincidental. However, partial expression has been described in heterozygotes for other autosomal recessive diseases. Until the gene responsible for this lethal syndrome is cloned and sequenced, such relatives of the proband may be offered genetic counselling and prenatal diagnosis.
Item Type: | Article |
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Source: | Copyright of this article belongs to BMJ Publishing Group. |
ID Code: | 25 |
Deposited On: | 16 Sep 2010 08:30 |
Last Modified: | 12 May 2011 03:49 |
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