High Resolution Banding
Mostrando 13-24 de 46 artigos, teses e dissertações.
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13. De novo duplication of the 7q11 leads to q22 region.
A patient with de novo partial trisomy for the 7q11 leads to 7q22 region as defined by methotrexate high resolution banding is described. he presented with delayed growth and development and characteristic physical features. These consisted of frontal bossing, prominent metopic suture, almond shaped eyes, enophthalmos, large, low set, posteriorly rotated ear
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14. Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.
The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was heterozygous for the deletion, which is subje
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15. Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
We report a cytogenetic and molecular study of a series of patients with Alagille syndrome. All 14 patients were studied with high resolution banding techniques and eight of them were also analysed with non-radioactive in situ hybridisation of the cosmid probe D20S6. Seven of these eight patients were also studied for allelic losses at the D20S6 locus. No mi
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16. Microphotometry of banded human chromosomes: High resolving power by direct scanning of the specimen compared with scanning on microphotographs
A method which was designed for microphotometric measurements of banded human chromosomes using a computer-controlled Zeiss scanning microscope photometer (SMP) is described. Modification of the Apamos 2 program (H. G. Zimmer, Zeiss, Oberkochen) enabled the scanning stage on the SMP to move the slides continuously thus obtaining high resolution of measuremen
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17. Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE).
High resolution banding analysis showed a de novo interstitial deletion, 46,XX, del(2) (q32.1q34), in a malformed and severely mentally retarded girl aged nine years. Biochemical studies showed that the proband had half normal activities of both erythrocyte isocitrate dehydrogenase (IDH1) and ribulose 5-phosphate 3-epimerase (RPE). It is suggested that the g
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18. Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH
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19. Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.
The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems we
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20. A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this
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21. Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.
With the aid of high resolution chromosome banding, a t(3;20) translocation was discovered in a large family with six retarded members. The translocation involved very small terminal segments. The unbalanced products resulting in partial trisomy 20q and monosomy 3p were observed in the retarded subjects. Gene localisation studies of the ADA gene, with a pres
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22. Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays
Uterine leiomyomas (ULs) are benign monoclonal tumors originating from myometrial tissue in the uterus. Genetic pathways that lead to myometrial transformation into leiomyomas are largely unknown. Approximately 40% of ULs are karyotypically abnormal by G-banding; however, the remaining 60% of leiomyomas do not contain cytogenetically visible genomic rearrang
Oxford University Press.
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23. Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
We report on a 21 month old child referred to us because of facial dysmorphism and psychomotor retardation. The patient's phenotype was characterised by a wide and receding forehead, broad nasal bridge, redundant retronuchal skin, low set and poorly shaped ears, micrognathia, and small hands and feet. High resolution R and G banding karyotype analysis of per
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24. Conserved regions of homologous G-banded chromosomes between orders in mammalian evolution: carnivores and primates.
The recent derivation of a biochemical map of 33 loci of the domestic cat (Felis catus) revealed a striking conservation of chromosomal linkage associations between the cat and humans. A comparison of homologous (by linkage criteria) chromosomes by using conventionally extended and high-resolution G-banding of human and feline chromosomes is presented. Four