Correlation Karyotype Phenotype
Mostrando 1-12 de 15 artigos, teses e dissertações.
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1. [PROVISIONAL] Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and
Genet. Mol. Biol.. Publicado em: 19/08/2019
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2. Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes / Caracterização citogenética molecular de cromossomos marcadores extranumerários
Rearranjos cromossômicos envolvendo a presença de cromossomos marcadores extranumerário são achados citogenéticos freqüentes em pacientes que apresentam deficiência mental, alterações de crescimento, dismorfias e/ou malformações. A presença desse material é responsável por trissomia ou tetrassomia parcial de determinadas regiões cromossômicas
Publicado em: 2008
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3. Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discus
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4. Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.
A retarded child with multiple malformations was found to have a karyotype 47,XY,de1(11)(11 pter leads to q21:), +mar(11 qter leads to q21::?). The mitotically stable centric marker had no demonstrable C heterochromatin. Phenotype-karyotype correlation and the role of C heterchromatin in phenotypic effects are discussed.
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5. A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.
A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal
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6. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome
A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micrognathia, and microsomy. Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria ar
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7. Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible
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8. X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.
A 13 year old girl referred for chromosome analysis because of disproportionate short stature (short neck, curved legs, pectus excavatum) with an initial clinical diagnosis of Turner's syndrome was found to have the karyotype 46,X, + der(X) in 100% of her blood lymphocytes. By means of conventional differential staining (QFH/AcD, FPG, and RBA banding) supple
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9. 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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10. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen i
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11. Gene Dosage Dependence of Pigment Synthesis in Melanoma x Fibroblast Hybrids
Hybrids between Syrian hamster melanoma cells and mouse fibroblasts, containing one genome (1s) of each parent, produce neither melanin nor DOPA-oxidase (“extinction”). Attempts to induce loss of the fibroblast chromosomes by irradiation of the fibroblasts before fusion with melanoma cells resulted in the formation of colonies comprising pigmented hybrid
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12. De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics.
A de novo tandem duplication 1q32--q42 was observed in a 7-month-old mentally retarded and malformed male infant. Karyotype-phenotype correlation in other similar unbalanced trisomies has shown psychomotor retardation, micro- or retrognathia or both, and low set or malpositioned ears to be the most common features associated with this newly recognised syndro