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An infant with an XXXYY karyotype
Clinical Genetics, 1974An infant with mild retardation of psychomotor development and ambiguous genitalia was found to have a 49, XXXYY karyotype. The identity of the chromosomes was established by different banding methods, both fluorescent and non‐fluorescent. An attempt was made to find the origin of the extra X chromosomes by testing the Xg blood group in the whole ...
E. M. E. Smit +4 more
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Constitutional karyotypes in retinoblastoma
Ophthalmic Paediatrics and Genetics, 1987The improvement of chromosome banding techniques has much increased the frequency of detected forms of retinoblastoma. Ten rearrangements involving 13q14 were observed in a series of 105 retinoblastoma patients including: five de novo deletions, one of them with suspected mosaicism; one de novo apparently balanced translocation; four deletions due to ...
J de Grouchy, Catherine Turleau
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Cordocentesis for rapid karyotyping
American Journal of Obstetrics and Gynecology, 1990Pure fetal blood was obtained by cordocentesis in 101 fetuses of 96 patients at 15 to 38 weeks' gestation. Rapid karyotype was obtained within 2 to 4 days by fetal lymphocyte culture. Chromosomal abnormality was detected in 12 (11.9%) fetuses.
Dinesh M. Shah +4 more
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Nature Reviews Genetics, 2007
The chromosome complements (karyotypes) of animals display a great diversity in number and morphology. Against this background, the genomes of all species are remarkably conserved, not only in transcribed sequences, but also in some chromosome-specific non-coding sequences and in gene order.
Malcolm A. Ferguson-Smith +1 more
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The chromosome complements (karyotypes) of animals display a great diversity in number and morphology. Against this background, the genomes of all species are remarkably conserved, not only in transcribed sequences, but also in some chromosome-specific non-coding sequences and in gene order.
Malcolm A. Ferguson-Smith +1 more
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Heterochromatin, colchicine, and karyotype
Chromosoma, 1965Species of Chilocorus differ in chromosome number owing to centric fusion of metacentric chromosomes. The concomitant loss of arms is tolerated because in all unfused chromosomes one arm is completely heterochromatic, the other euchromatic. Under the influence of colchicine, the arms of unfused and fused chromosomes contract differentially.
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An unusual karyotype in preleukemia
Cancer Genetics and Cytogenetics, 1982A case of a myeloproliferative disorder classified as preleukemia is described in which the patient developed a single, complicated, abnormal karyotype in 100% of the bone marrow cells (45, XY, -2, -5, -7, -8, -11, -12, -13, -14, + t(2;5), +t(11;12), +t(16;17), +17, plus three or four dicentric markers).
R.R. Khaund +4 more
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European Journal of Medical Genetics, 2016
While array-comparative genomic hybridization (a-CGH) and next-generation sequencing (NGS or exome) technologies have swiftly spread throughout the medical field, karyotype has gradually lost its leading role among genetic tests. Several international guidelines recommend starting with a-CGH screening then going on with exome analysis when ...
Pasquier, Laurent +13 more
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While array-comparative genomic hybridization (a-CGH) and next-generation sequencing (NGS or exome) technologies have swiftly spread throughout the medical field, karyotype has gradually lost its leading role among genetic tests. Several international guidelines recommend starting with a-CGH screening then going on with exome analysis when ...
Pasquier, Laurent +13 more
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A database of amphibian karyotypes
Chromosome Research, 2019One of the first characteristics that we learn about the genome of many species is the number of chromosomes it is divided among. Despite this, many questions regarding the evolution of chromosome number remain unanswered. Testing hypotheses of chromosome number evolution using comparative approaches requires trait data to be readily accessible and ...
Riddhi D. Perkins +6 more
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Annual Review of Ecology and Systematics, 1971
A comprehensive review of the karyotype in plant systematics was pub lished by Lewitsky (83) 40 years ago under this same title. He was dissatis fied with the narrow use of meager karyological data and included his own more complete work on several genera of the Ranunculaceae subfamily Hel leboreae.
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A comprehensive review of the karyotype in plant systematics was pub lished by Lewitsky (83) 40 years ago under this same title. He was dissatis fied with the narrow use of meager karyological data and included his own more complete work on several genera of the Ranunculaceae subfamily Hel leboreae.
openaire +2 more sources