RESUMO
An association between the rare condition of transient neonatal diabetes mellitus and either uniparental disomy for chromosome 6 or dup(6)(q22q23) raised the assumption that in this location on chromosome 6 there is an imprinted gene. We diagnosed diabetes that developed in a baby girl immediately after birth and resolved after 7 weeks of insulin treatment. Due to some minor dysmorphic features, we investigated her karyotype and identified invdup(6)(q22q23). The duplication spans at least 10 cM including the DNA sites DS270,S314,S1684 and S310. This case further supports the assumption that an imprinted gene exists on chromosome 6q22-23.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 6/genética , Diabetes Mellitus/genética , Pré-Escolar , Bandeamento Cromossômico , Transtornos Cromossômicos , Feminino , Impressão Genômica/genética , Humanos , Hibridização in Situ Fluorescente , Insulina/uso terapêutico , Cariotipagem , Linfócitos , Repetições de Microssatélites , Família Multigênica/genéticaRESUMO
Two de novo abnormal derivatives of chromosome 15, inv dup(15) and dup(15q) were found in a girl with developmental delay and mild dysmorphological signs. Fluorescence in situ hybridization, using DNA probes of the Prader-Willi/Angelman syndromes (PWS/AS) critical region and chromosome-15-specific alpha-satellite, combined with molecular analysis using dinucleotide repeat polymorphisms within the PWS/AS region and the parent-of-origin specific methylation sites at the locus D15S63, shed light on how the abnormal karyotype was formed. We suggest that a translocation between the two homologues of maternal chromosomes 15 resulted in the formation of dup(15q) and two reciprocal products: an acentric fragment of 15q that was lost and a centric fragment that underwent U-type reunion to form inv dup(15).
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 15/genética , Síndrome de Angelman/genética , Pré-Escolar , Inversão Cromossômica , Troca Genética/genética , Sondas de DNA/genética , Feminino , Humanos , Deficiência Intelectual/genética , Cariotipagem , Polimorfismo Genético/genética , Síndrome de Prader-Willi/genética , Sequências Repetitivas de Ácido Nucleico/genética , Translocação Genética/genéticaRESUMO
A unique automated sampling manifold designed to recover cells grown in standard 96 well microplates from their culture medium is described. Cells are recovered and washed on fiber glass filter discs. Incorporation of radioisotopes into cells, can then be measured by appropriate counting of the filter discs. Typical applications include termination of mixed lymphocyte cultures, assays of mitogen stimulation of lymphocytes and antigen-specific lymphocyte transformation and assays of interferon activity. The harvester can also be used in other biological systems where collection and washing of precipitates is desired.
Assuntos
Técnicas Imunológicas/instrumentação , Ativação Linfocitária , Autoanálise , Humanos , Teste de Cultura Mista de Linfócitos , Fito-Hemaglutininas/farmacologia , Timidina/metabolismoRESUMO
We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 18 , Mosaicismo , Adulto , Transtornos Cromossômicos , Feminino , Humanos , Lactente , CariotipagemRESUMO
We describe a familial paracentric inversion (X)(q21.2 q24) in a family with 2 male and 2 female carriers. The males were mentally retarded and the females were normal with normal ovarian function. It is suggested that a recessive mental retardation (MR) gene was disrupted by one of the inversion breakpoints, although an X-linked MR gene which by chance is linked to the inv(X) could not be ruled out. In the female carriers of the paracentric inversion a random X-inactivation was demonstrated. The normal ovarian function is an exception to the concept of "critical region" at Xq13-q26.
Assuntos
Inversão Cromossômica , Surdez/genética , Deficiência Intelectual/genética , Cromossomo X , Adolescente , Mecanismo Genético de Compensação de Dose , Feminino , Heterozigoto , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Ovário/fisiologia , LinhagemRESUMO
Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1) pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 cM (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 21.
Assuntos
Cromossomos Humanos Par 15 , Cromossomos Humanos Par 21 , Monossomia , Translocação Genética , Trissomia , Adolescente , Criança , Bandeamento Cromossômico , Feminino , Marcadores Genéticos , Humanos , Cariotipagem , Masculino , Linhagem , SíndromeRESUMO
A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome II is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.
Assuntos
Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 11 , Coloboma/genética , Translocação Genética/genética , Úvea/anormalidades , Bandeamento Cromossômico , Transtornos Cromossômicos , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 3/genética , Rearranjo Gênico , Humanos , Recém-Nascido , MasculinoRESUMO
A microprocessor-controlled scanning device for use in carbon dioxide laser surgery is described. This device increases the speed of dissection, allows the surgeon to keep both hands in the operative field, and thereby decreases the fatigue associated with manual control of the micromanipulator used in a surgical laser system.
Assuntos
Computadores , Terapia a Laser , Microcomputadores , Microcirurgia , Dióxido de Carbono , Humanos , Equipamentos CirúrgicosRESUMO
Prevention of exposure of the endoscopist to high levels of anesthetic gases during bronchoscopy was attempted experimentally in dogs by a scavenging system. Results were compared with exposure during the conventional technique of anesthetic gas administration for clinical bronchoscopy using the rigid open ventilating bronchoscope. The scavenging system consisted of a vacuum pump applied to the open ventilating rigid bronchoscope sidearm connection during intratracheal administration of nitrous oxide, , oxygen, and halothane gas mixture. Gas samples were taken from the trachea, the proximal end of the bronchoscope, and the endoscopist's breathing zone, and analyzed by gas chromatography. Findings indicate that halothane anesthesia for bronchoscopy administered by conventional techniques is a source of air pollution in the operating room and exposes the endoscopist to subanesthetic levels of halothane that may affect psychomotor functioning. The use of the gas scavenging system lowered the concentrations of halothane and nitrous oxide at the endoscopist's breathing zone to a level at which inhalation for short periods has no clinical effects, while the concentrations of the anesthetics and oxygen in the trachea were maintained at a satisfactory level.