Monosomy
Mostrando 13-24 de 130 artigos, teses e dissertações.
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13. Cytogenetic description of breast fibroadenomas: alterations related solely to proliferation?
Twelve breast fibroadenomas were analyzed cytogenetically and only four were found to have clonal alterations. The presence of chromosomal alterations in fibroadenomas must be the consequence of the proliferating process and must not be related to the etiology of this type of lesion. In contrast, the few fibroadenomas that exhibit chromosomal alterations are
Brazilian Journal of Medical and Biological Research. Publicado em: 2001-08
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14. Screening fetal losses for monosomy X with a simple PCR-based procedure
Para a detecção molecular de monossomia X em perdas fetais espontâneas, nós exploramos uma estratégia baseada em perda de heterozigosidade, desenvolvendo um sistema multiplex fluorescente que permite a amplificação simultânea de cinco microssatélites em uma região com baixa recombinação no cromossomo X. A análise foi então feita por densitometr
Genetics and Molecular Biology. Publicado em: 2000-03
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15. Estudo genetico-clinico de individuos com caracteristicas da Sindrome Kabuki
The Kabuki (Niikawa- Kuroki) syndrome (KS), first and independent1y described in Japan in 1981 by Niikawa et a!. and Kuroki et ai., is a multiple congenital anomaly/mental retardation syndrome. This syndrome is characterized by a peculiar facies which resembles the Kabuki theatre make-up, with long palpebral fissures and eversion of lower lids, arched eyebro
Publicado em: 2000
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16. Associações telomericas como indicadores de instabilidade cromossomica em pacientes com leucemias mieloides e sindromes mielodisplasicas
The associations between specific chromosomal abnormalities and different types of hematological neoplasias are well established. However, telomeric associations (tas), which are associations between termini regions of chromosomes (telomeres), are sporadicly observed in neoplasias, leading to the question about their role as a biological indicator of occupat
Publicado em: 1999
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17. Estudo cromossomico em sindromes mielodisplasicas
The míelodysplastyc syndromes (MDS) can precede the development of acute nonlymphocytic leukemia (ANLL) and are classified as five different hemotological groups 1) refractory anaemia (RA), 2) refractory anaemia with ring sideroblasts (RAS), 3) refractory anaemia with excess blasts (RAEB), 4) refractory anaemia with excess blasts in transformation (RAEBt) a
Publicado em: 1988
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18. Monosomy 13q32.3----qter: report of two cases.
Two unrelated patients with monosomy 13q32.3----qter are reported. Comparison with six similar cases previously published indicates that the craniofacial dysmorphism of the 13qter monosomy syndrome is related to band 13q34, the thumb hypoplasia to band 13q32, and an apparently different phenotype to band 13q33. Coagulation deficiency appears to be non-specif
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19. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.
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20. Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.
We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously report
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21. Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?
The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypogammaglobulinaemia and selective deficit of IgA, particularly
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22. MRI findings in a patient with partial monosomy 10p.
Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a
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23. Monosomy 22 with mosaicism
A 2-year-old male child with mosaicism for monosomy of chromosome 22 is described. He had moderate psychomotor retardation, generalised hypotonia, large ears, epicanthus, synophrys, and cutaneous syndactyly between all the fingers.
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24. Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, a