共查询到20条相似文献,搜索用时 31 毫秒
1.
Summary A patient is described carrying a duplication 4p12pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.Postdoctoral fellow of the Deutsche Forschungsgemeinschaft. 相似文献
2.
Brunella Franco Li-Wen Lai David Patterson David H. Ledbetter Barbara J. Trask Ger van den Engh Susan Iannaccone Shannon Frances Pragna I. Patel James R. Lupski 《Human genetics》1991,87(3):269-277
Summary We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23–1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23–q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000–16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21–1q25. 相似文献
3.
P. Franceschini M. Cirillo Silengo G. F. Davi M. A. Santoro G. Prandi C. Fabris 《Human genetics》1978,42(3):345-348
Summary We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal. 相似文献
4.
Stalmans I Lambrechts D De Smet F Jansen S Wang J Maity S Kneer P von der Ohe M Swillen A Maes C Gewillig M Molin DG Hellings P Boetel T Haardt M Compernolle V Dewerchin M Plaisance S Vlietinck R Emanuel B Gittenberger-de Groot AC Scambler P Morrow B Driscol DA Moons L Esguerra CV Carmeliet G Behn-Krappa A Devriendt K Collen D Conway SJ Carmeliet P 《Nature medicine》2003,9(2):173-182
Hemizygous deletion of chromosome 22q11 (del22q11) causes thymic, parathyroid, craniofacial and life-threatening cardiovascular birth defects in 1 in 4,000 infants. The del22q11 syndrome is likely caused by haploinsufficiency of TBX1, but its variable expressivity indicates the involvement of additional modifiers. Here, we report that absence of the Vegf164 isoform caused birth defects in mice, reminiscent of those found in del22q11 patients. The close correlation of birth and vascular defects indicated that vascular dysgenesis may pathogenetically contribute to the birth defects. Vegf interacted with Tbx1, as Tbx1 expression was reduced in Vegf164-deficient embryos and knocked-down vegf levels enhanced the pharyngeal arch artery defects induced by tbx1 knockdown in zebrafish. Moreover, initial evidence suggested that a VEGF promoter haplotype was associated with an increased risk for cardiovascular birth defects in del22q11 individuals. These genetic data in mouse, fish and human indicate that VEGF is a modifier of cardiovascular birth defects in the del22q11 syndrome. 相似文献
5.
Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22 总被引:1,自引:0,他引:1
Fernande Barichard Virginie Joulin Isabelle Henry Marie-Claude Garel Colette Valentin Raymonde Rosa Michel Cohen-Solal Claudine Junien 《Human genetics》1987,77(3):283-285
Summary A 1.1-kb cDNA clone for human 2,3-bisphospho-glycerate mutase (BPGM) (EC2.7.5.4) was used to map the structural gene to metaphase
chromosomes. In situ hybridization experiments localized the human BPGM gene to chromosome 7 and, more precisely, to region
7q34→7q22. 相似文献
6.
7.
Summary An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24q31. No other trait could plausible be mapped. Risks of 7.9 to 31.9% for aneusomic children and of 26.3% for abortion were estimated in the present family. 相似文献
8.
Kaisa M. Linderborg Gunveen Kaur Eliza Miller Peter J. Meikle Amy E. Larsen Jacquelyn M. Weir Anu Nuora Christopher K. Barlow Heikki P. Kallio David Cameron-Smith Andrew J. Sinclair 《Prostaglandins, leukotrienes, and essential fatty acids》2013,88(4):313-319
The study of the metabolism of docosapentaenoic acid (DPA, 22:5n?3) in humans has been limited by the unavailability of pure DPA and the fact that DPA is found in combination with eicosapentaenoic acid (EPA, 20:5n?3) and docosahexaenoic acid (DHA, 22:6n?3) in natural products. In this double blind cross over study, pure DPA and EPA were incorporated in meals served to healthy female volunteers. Mass spectrometric methods were used to study the chylomicron lipidomics. Plasma chylomicronemia was significantly reduced after the meal containing DPA compared with the meal containing EPA or olive oil only. Both EPA and DPA were incorporated into chylomicron TAGs, while there was less incorporation into chylomicron phospholipids. Lipidomic analysis of the chylomicron TAGs revealed the dynamic nature of chylomicron TAGs. The main TAG species that EPA and DPA were incorporated into were EPA/18:1/18:1, DPA/18:1/16:0 and DPA/18:1/18:1. There was very limited conversion of DPA and EPA to DHA and there were no increases in EPA levels during the 5 h postprandial period after the DPA meal. In conclusion, EPA and DPA showed different metabolic fates, and DPA hindered the digestion, ingestion or incorporation into chylomicrons of the olive oil present in the meal. 相似文献
9.
10.
Nielsen Johannes Vetner Max Holm Vagn Askjær Svend Aage Reske-Nielsen Edith 《Human genetics》1977,38(3):357-362
Summary A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971–1977), in reference to a probably autosomal recessive inheritance of this malformation. 相似文献