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41.
Eiko Arai Shuichi Nishimura Kenichi Tamura Mitsushiro Kida Tatsuro Ikeuchi 《Journal of human genetics》1994,39(4):433-437
Summary Distal deletion of chromosome 1q has been reported in nearly 30 patients, all being associated with a deletion ranging from the 1q42 or q43 band to 1qter region. Here, we describe a girl with 1q terminal deletion resulting from an unbalancedde novo translocation t(1;D or G)(q44; p11), as revealed by the presence of a satellited feature and an NOR-stained region at the tip of 1q. We suggest that most of the phenotypic abnormalities seen in patients with 1q distal deletion are attributable to the monosomy for band 1q44. 相似文献
42.
De novo 13q partial duplication identified by cytogenetic, biochemical and molecular approaches 总被引:1,自引:0,他引:1
S. Schwartz M. Harris R. Ehrenpreis A. Zaslav L. J. Raffel M. F. Schwartz E. Lieber M. M. Cohen 《Clinical genetics》1991,40(6):417-422
A 3.5-month-old female infant manifesting dysmorphic facies, developmental delay and failure to thrive was referred for cytogenetic evaluation. Peripheral lymphocytes revealed three chromosomally distinct cell lines: 46,XX/46,XX,10p+/47,XX,10p+,+mar. Dermal fibroblasts revealed only the 46,XX,10p+cell line. High resolution G-, R-, and Q-banding suggested that the extra chromosomal material (10p+) represented a duplication of the segment 13q14----13qter. Parental karyotypes were normal. As absolute identification of de novo chromosomal abnormalities, based solely on cytogenetic studies, is sometimes difficult, both biochemical and molecular approaches were undertaken to elucidate this abnormality in more detail. Dosage effects were examined using esterase D (localized to 13q14.1) and the DNA probes p1E8 and p9A7 (localized to 13q22 and 13q31/32, respectively). These studies suggested the presence of only 2 copies of esterase D, but 3 copies of both DNA probes, allowing identification of the breakpoint at 13q14.2. 相似文献
43.
The distribution of HLA antigen frequencies has been studied in patients with affective disorders. There were no significant differences between bipolar patients, unipolar patients, or controls. Preliminary data on HLA antigen distribution in schizophrenic patients are reported. Our negative results in affective disorders are discussed in relation to HLA studies reported from other laboratories, with special reference to some potential methodological problems. 相似文献
44.
45.
The Cornelia de Lange syndrome was first described in 1933. Since then, more than 250 cases have been described in the medical literature. It has generally been considered to be sporadic, but several authors have raised the possibility of genetic factors. We present a mother and child affected with Cornelia de Lange syndrome and raise the possibility of autosomal dominant inheritance. 相似文献
46.
A case of a male infant with several congenital anomalies combined with an interstitial deletion of the long arm of chromosome no. 5 is presented. The symptoms of the infant were compared to five previous reported cases with similar interstitial deletions in 5q. 相似文献
47.
血糖感应型胰岛素给药智能载体的研究进展 总被引:1,自引:0,他引:1
胰岛素控制释放高分子载体系统一直是国内外科技工作者的研究热点 ,迄今已经研究报道了多种具有不同工作原理的血糖感应型胰岛素给药智能载体。本文基于国内外大量研究文献 ,综述了血糖感应型胰岛素控制释放智能化高分子载体的研究进展。 相似文献
48.
After an injury to the right ring finger, a 44-year-old woman experienced pain in the distal interphalangeal joint. A subcutaneous mucoid cyst was noted near the joint. The x-ray films revealed no fracture but a narrowing of the joint space and a well-defined radiolucent area in the ulnar condyle of the middle phalanx. The biopsy specimen of this area excluded infection or tumor and revealed active osteogenic remodelling. These elements permitted a diagnosis of distal interphalangeal osteoarthritis that was associated with highly localized Sudeck's dystrophy (also called " parcellar algodystrophy"). This unusual case suggests the possibility that this dystrophy might be favored by an "osteoarthritic terrain" and might also play a role in the evolution of the osteoarthritis. 相似文献
49.
50.