共查询到7条相似文献,搜索用时 15 毫秒
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Prenatal diagnosis of charcot-marie-tooth disease type 1a (CMT1A) using molecular genetic techniques
R. Navon V. Timmerman A. Löfgren P. Liang E. Nelis M. Zeitune Professor Dr. C. Van Broeckhoven Ph.D. 《黑龙江环境通报》1995,15(7):633-640
Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication. 相似文献
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Dr. Susanna Bunge Cordula Steglich Peter Lorenz Michael Beck Suying Xu John J. Hopwood Andreas Gal 《黑龙江环境通报》1994,14(9):777-780
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II. 相似文献
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We diagnosed a pure partial trisomy of the long arm of chromosome 1 in a fetus with multiple malformations detected prenatally. The father was a carrier of a balanced rearrangement involving 46,XY,inv(1)(qter→p36::q32→qter::p36→q32). The fetus had preaxial polydactyly, low-set ears, macrocephaly, a prominent forehead, a broad and flat nasal bridge, a small mouth, an arched palate, micrognathia and unilateral renal agenesis. The couple had previously an infant with the same phenotypic abnormalities. The aberration was initially detected on amniocentesis with GTG banding and was confirmed by fluorescence in situ hybridization (FISH). Our case and other published pure trisomy 1q32-44 cases showed similarities, which allowed the further delineation of the trisomy 1q syndrome. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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A. Ghosh L. Higgins S. A. Larkins C. Miller N. Ostojic W. L. Martin M. D. Kilby 《黑龙江环境通报》2008,28(11):1068-1071