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Syndrome 47, XXYY, 13-, 14-, t(13q14q)+ 总被引:2,自引:0,他引:2
S Gilgenkrantz J P Grilliat D A Vautrin B Plouvier C Cabrol 《Annales de génétique》1970,13(3):201-206
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E Niebuhr 《Annales de génétique》1973,16(3):199-202
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Unusual findings by fluorescence microscopy of a t(13q14q) 总被引:1,自引:0,他引:1
E Niebuhr 《Humangenetik》1972,15(1):96-98
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E. Niebuhr 《Human genetics》1972,15(1):96-98
Summary Fluorescence studies in a 13q14q translocation seem to indicate, that the centromeric region of both chromosomes has been preserved. It is assumed, that the 13 centromere, not visible in Giemsa staining, is suppressed by the active 14 centromere. It is emphasized that Robertsonian translocations in man might be due to breaks in the short arms of the involved chromosomes.
Zusammenfassung Die Färbung einer 13q14q-Translokation mit Quinacrin-Lost scheint zu indicieren, daß die Zentromerregionen beider Chromosomen erhalten sind. Das Zentromer des Chromosoms Nr. 13 ist nicht sichtbar bei Giemsafärbung. Es ist möglich, daß es durch das aktive 14-Zentromer unterdrückt worden ist. Zentrische Fusionen beim Menschen können somit wahrscheinlich durch Brüche an beiden kurzen Armen der implizierten Chromosomen entstehen.相似文献
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Chromosomal investigation of a young girl with mental and motor retardation and congenital anomalies revealed a translocation between both members of pair No. 13. Banding analysis showed that the translocation was "tandem," leading to monosomy for segments in both the long and short arms of No. 13. 相似文献
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A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q)+ karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented. 相似文献
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A female patient with moderate psychomotor retardation, minor anomalies and proximal trisomy 14q due to segregation of a maternal translocation is reported. 相似文献
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P Martinez-Castro M C Ramos J A Rey J Benitez A Sanchez Cascos 《Cytogenetics and cell genetics》1984,38(4):310-312
A family containing three homozygous carriers for a Robertsonian (13q14q) translocation, 44,XX or XY,t(13q14q),t(13q14q), is reported. Their parents are first cousins, and both are heterozygous carriers of the same (13q14q) translocation. The fertility of both the heterozygous and homozygous carriers is discussed. 相似文献
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Gamage TH Godapitiya IU Nanayakkara S Jayasekara RW Dissanayake VH 《Indian journal of human genetics》2012,18(1):130-133
In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [9]. We compared the features observed in this child with that of others with the same deletion reported in scientific literature and found that this is the first report of a child mosaic for this deletion. It is also the first time it has been reported in association with anophthalmia. 相似文献
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Partial trisomy 13: karyotype 46,XY,-6, plus t(13q,6q) 总被引:2,自引:0,他引:2
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A two-year-old girl has the following features of the cri du chat syndrome: microcephaly, hypertelorism, downward slanting of the palpebral fissures, psychomotor retardation and a cat-like cry. She is only of five patients having the cat cry syndrome with 45 chromosomes. Her karyotype is 45,XX, -5, -14, +t(5; 14)(5qter leads to 5p11: : 14q11 leads to 14qter) with the translocation inherited from her mother and maternal grandmother, each of whom is the carrier of a balanced translocation 46,XX,t(5;14)(p11q11). Normal plasma activity for hexosaminidase B suggests the locus for this enzyme is not located in the delected segment of 5 p. 相似文献
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Summary A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13–21 and 13–15 associations in the great grandmother. 相似文献
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Ikram MK Sim X Xueling S Jensen RA Cotch MF Hewitt AW Ikram MA Wang JJ Klein R Klein BE Breteler MM Cheung N Liew G Mitchell P Uitterlinden AG Rivadeneira F Hofman A de Jong PT van Duijn CM Kao L Cheng CY Smith AV Glazer NL Lumley T McKnight B Psaty BM Jonasson F Eiriksdottir G Aspelund T;Global BPgen Consortium Harris TB Launer LJ Taylor KD Li X Iyengar SK Xi Q Sivakumaran TA Mackey DA Macgregor S Martin NG Young TL Bis JC Wiggins KL Heckbert SR Hammond CJ Andrew T Fahy S Attia J Holliday EG 《PLoS genetics》2010,6(10):e1001184
There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify genetic variants associated with retinal vascular caliber. We analyzed data from four population-based discovery cohorts with 15,358 unrelated Caucasian individuals, who are members of the Cohort for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and replicated findings in four independent Caucasian cohorts (n = 6,652). All participants had retinal photography and retinal arteriolar and venular caliber measured from computer software. In the discovery cohorts, 179 single nucleotide polymorphisms (SNP) spread across five loci were significantly associated (p<5.0×10(-8)) with retinal venular caliber, but none showed association with arteriolar caliber. Collectively, these five loci explain 1.0%-3.2% of the variation in retinal venular caliber. Four out of these five loci were confirmed in independent replication samples. In the combined analyses, the top SNPs at each locus were: rs2287921 (19q13; p = 1.61×10(-25), within the RASIP1 locus), rs225717 (6q24; p?=?1.25×10(-16), adjacent to the VTA1 and NMBR loci), rs10774625 (12q24; p = 2.15×10(-13), in the region of ATXN2,SH2B3 and PTPN11 loci), and rs17421627 (5q14; p?=?7.32×10(-16), adjacent to the MEF2C locus). In two independent samples, locus 12q24 was also associated with coronary heart disease and hypertension. Our population-based genome-wide association study demonstrates four novel loci associated with retinal venular caliber, an endophenotype of the microcirculation associated with clinical cardiovascular disease. These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular disease. 相似文献
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Yoshimitsu Fukushima Yoshikazu Kuroki Taizo Ito Ikuko Kondo Itsuro Nishigaki 《Human genetics》1987,77(2):104-107
Summary We present here the first familial cases (a mother and son) of dominantly inherited retinoblastoma with a 13q14 deletion [46,XY or XX,del(13)(q14.1q21.2)]. Their esterase D activities in red blood cells were as low as 50% of the normal control and the haplotype of esterase D was a type 1-0 in the mother and a type 2-0 in the son. They had peculiar facies characterized by a high forehead, low and broad nasal root, a short and bulbous nose, a long philtrum, and open mouth with a thin upper lip, and prominent earlobes. Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance. This family indicates that one of the causes of dominantly inherited retinoblastoma is a chromosome deletion of part of the 13q14 band whether it is detectable by chromosome analysis or not. 相似文献
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Summary A familial DD translocation was identified as a translocation t(13q14q) by means of a thermic moderated denaturation banding technique. 相似文献
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Summary A family with a t(13q14q) is presented. The leukemic proband had a Philadelphia (Ph1) chromosome and the translocated chromosome. The translocation seems to have been present in 4 generations. 相似文献