Isochromosomes
Mostrando 1-12 de 16 artigos, teses e dissertações.
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1. Determination of the Sexual Phenotype in a Child with 45,X/46,X,Idic(Yp) Mosaicism: Importance of the Relative Proportion of the 45,X Line In Gonadal Tissue. / Determinação do Fenótipo Sexual em uma Criança com Mosaicismo 45,X/46,X,Idic(Yp): Importância da Proporção Relativa da Linhagem 45,X no Tecido Gonadal.
We report here on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome [UTS], except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization
Publicado em: 2006
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2. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).
A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis. In this non-mosaic case with an X short arm duplication, most of the stigmata associated with Turner's syndrome were absent. This structure was compared with that of six i(Xq) and three del(X). The del(Xq) structures all p
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3. The Development and Meiotic Behavior of Asymmetrical Isochromosomes in Wheat
To determine which segments of a chromosome arm are responsible for the initiation of chiasmate pairing in meiosis, a series of novel isochromosomes was developed in hexaploid wheat (Triticum aestivum L.). These isochromosomes are deficient for different terminal segments in the two arms. It is proposed to call them ``asymmetrical.'' Meiotic metaphase I pair
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4. Isochromosomes in Tomato
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5. The Origin of Iso-Chromosomes at Meiosis
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6. Chromosome painting in plants: in situ hybridization with a DNA probe from a specific microdissected chromosome arm of common wheat.
We report here on the successful painting of a specific plant chromosome within its own genome. Isochromosomes for the long arm of chromosome 5 of the wheat B genome (5BL) were microdissected from first meiotic metaphase spreads of a monoisosomic 5BL line of the common wheat Triticum aestivum cv. Chinese Spring. The dissected isochromosomes were amplified by
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7. Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.
Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to be possible isochromosomes of the long a
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8. Differences in human X isochromosomes.
In this paper we describe two types of i(Xq), in three patients. A classification is proposed for at least seven different types of human i(Xq)s or X long-arm duplications described by banding in the literature. Type 1 reported here and also in the literature may be the most common. It consists of a single visible centromere, metacentric, length similar to n
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9. Dicentric X isochromosomes in man.
Four cases of Turner's syndrome are presented in which an apparent X isochromosome i(Xq) has been found to possess two regions of centromeric heterochromatin. It is suggested that these chromosomes were isodicentric structures capable of functioning as monocentric elements as a result of the inactivation of one centromere. The prevalence of mosaicism is beli
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10. Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some charact
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11. Sibs with tetrasomy 18p born to a mother with trisomy 18p.
We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palat
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12. Differentially Painting Human Chromosome Arms with Combined Binary Ratio-labeling Fluorescence In Situ Hybridization
Recently we developed a novel strategy for differentially painting all 24 human chromosomes. It is termed COBRA–FISH, short for combined binary ratio labeling–fluorescence in situ hybridization. COBRA–FISH is distinct from the pure combinatorial approach in that only 4 instead of 5 fluorophores are needed to achieve color discrimination of 24 targets.
Cold Spring Harbor Laboratory Press.