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Diastematomyelia in two sisters

โœ Scribed by Balc?, Sevim; Caglar, Kudret; Eryilmaz, Muzaffer


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
15 KB
Volume
86
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990910)86:2<180::aid-ajmg18>3.0.co;2-5

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โœฆ Synopsis


Diastematomyelia is a rare spinal cord anomaly that usually occurs in a nonsyndromal, sporadic manner; however, few familial cases have been reported. We report on diastematomyelia in 2 sisters with variable expressivity. The spinal column is divided by osseous or fibrous tissue. This may be responsible for the variable expressivity. Most cases previously reported were females. This suggests X-linked dominant inheritance with lethality in hemizygous males or female sex limitation of a multifactorial trait. Am. J. Med. Genet. 86:180-182, 1999.


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