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排序方式: 共有110条查询结果,搜索用时 15 毫秒
1.
Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome 总被引:5,自引:0,他引:5
The case of a neonate with clinical symptoms of DiGeorge syndrome is reported. During pregnancy the measurements by ultrasonography revealed already a significant growth retardation of the fetus, for the first time obvious in the 20th week. The child died immediately after birth. A de novo translocation X/22 was observed with the translocation chromosome being late replicating in all mitoses analysed. The own observation is discussed regarding other cases with DiGeorge syndrome and taking the differential diagnoses into account. count. 相似文献
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We report on a boy with duplication of the short arm of chromosome 7 (karyotype 46,XY, dup (7) (p11.2----pter), QFQ, GTG, RBA). The boy showed delayed closure of fontanels, reduced eyebrows, short nose with low and broad nasal bridge, small upper and prominent full lower lips, severe delay of speech development. Comparison with the phenotype of 15 reported cases from the literature in relation to the extent of the duplicated segment did not show a clear phenotype/karyotype correlation. 相似文献
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Markus M. Nöthen Thomas Eggermann Jeanette Erdmann Bernd Eiben Dieter Hofmann Peter Propping Gesa Schwanitz 《Human genetics》1993,92(4):347-349
The parental origin of the extra chromosome in trisomy 18 was traced in 30 informative families using highly polymorphic (CA) repeats mapped on the long arm of chromosome 18. Proband DNA was recovered from slides of chromosome preparations in 28 cases and from paraffin-embedded tissues in two cases. The extra chromosome was found to be of maternal origin in 26 cases (86.7%), and paternal origin in 4 cases (13.3%). 相似文献
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Partial trisomy 10p. 总被引:1,自引:0,他引:1
It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p. 相似文献
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