Advanced search×

Welcome to the Pubget Medical Subject Headings (MeSH) browser.

Click on a topic or subtopic below to explore related papers. You'll find the most recent paper about the current MeSH term along with other related papers below.

All › Investigative Techniques › Clinical Laboratory Techniques › Cytological Techniques › Cytogenetic Analysis › Chromosome Banding

Chromosome Banding (0)

      Articles on Chromosome Banding

      1. Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.
        Ruth R Mikelsaar, Jelena J Lissitsina, and Oliver O Bartsch

        J Appl Genet 52(3):331-4 (2011) PMID 21465155

        We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. This case supports the opinion that supernumerary inv dup(22)(q11.1) could play a role in male infertility. We suggest that the breakpoint in the region 22q11.1 and/or fourfold d...
      2. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.
        Florence F Petit, Joris J Andrieux, ... Sylvie S Manouvrier-Hanu

        Eur J Med Genet 54(5):e525-7 (2011) PMID 21782985

        We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and arising de novo in a male presenting a congenital diaphragmatic hernia (CDH). Our case is the second report of EFNB1 duplication asso...
      3. Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
        Diana D Zahnleiter, Udo U Trautmann, ... Christian T CT Thiel

        Eur J Med Genet 54(5):e521-4 (2011) PMID 21777705

        We identified a maternally inherited 14.2Mb duplication 5q22.1-q23.2 in two female siblings and their mother by molecular karyotyping. Both siblings were small for gestational age and presented with pronounced post-natal growth retardation, mild motor delay, congenital heart disease in one of the si...
      4. [Study of the organization of polytene chromosomes in the nuclei of Drosophila melanogaster pseudonurse cells with the use of the DNA librar...
        V N VN Stegniĭ, N M NM Nemirovich-Danchenko, and A D AD Bagdalova

        Genetika 47(5):697-702 (2011) PMID 21786676

        The location of the Drosophila orena chromocenter in polytene chromosomes of pseudonurse cells of the D. melanogaster ovaries (the otu11 mutation) and salivary glands has been studied. Numerous sites of location of the D. orena chromocenter DNA have been found throughout the length of D. melanogaster...
      5. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.
        B F BF Gamba, G H GH Vieira, ... D D Morreti-Ferreira

        Genet Mol Res 10(4):2664-70 (2011) PMID 22057962

        We carried out an active search for patients in Associations of Parents and Friends of Exceptional Children (APAE) of São Paulo and genetic centers in Brazil. Forty-eight patients were screened for mental retardation, craniofacial abnormalities and stereotyped behavior with a diagnosis of SMS. In s...
        PDF not found
      6. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.
        E E Tug, N N Cine, and H H Aydin

        Genet Couns 22(1):11-9 (2011) PMID 21614983

        We present a girl with full SMS phenotype. G-banding cytogenetic analysis showed normal 46,XX karyotype. Whole-genome array comparative genomic hybridization (CGH) was performed due to the severity of the phenotype and the unusual features present in the patient. An interstitial deletion in 17p11.2-...
      7. Introgression of chromosome 3Ns from Psathyrostachys huashanica into wheat specifying resistance to stripe rust.
        Houyang H Kang, Yi Y Wang, ... Yonghong Y Zhou

        PLoS One 6(7):e21802 (2011) PMID 21760909

        We evaluated the alien introgressions PW11-2, PW11-5 and PW11-8 which were derived from line PW11 for reaction to new Pst race CYR32, and used molecular and cytogenetic tools to characterize these lines. The introgressions were remarkably resistant to CYR32, suggesting that the resistance to stripe...
        View PDF
      8. De novo supernumerary marker chromosome originating from chromosome 17 resulting in a normal pregnancy outcome.
        S S Yakut, Z Z Cetin, ... G G Luleci

        Genet Couns 22(1):63-8 (2011) PMID 21614990

        We report here a prenatal case with de novo supernumerary marker chromosome originating from chromosome 17 in non-mosaic form resulting in normal pregnancy outcome. In this case, a 26-year-old pregnant woman was referred for amniocenthesis and microdeletion Fluorescence In Situ Hybridization (FISH) t...
      9. Heterogeneity of pericentric inversions of the human y chromosome.
        S Knebel, J J Pasantes, ... W Schempp

        Cytogenet Genome Res 132(4):219-26 (2011) PMID 21307635

        I and II are familial cases showing inversion breakpoints that map in Yq11.23 or in Yq11.223, outside the ampliconic fertility gene cluster of DAZ and CDY in AZFc. Inv(Y)-type III shows an inversion breakpoint in Yq11.223 that splits the DAZ and CDY fertility gene-cluster in AZFc. This inversion typ...
      10. Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.
        R Santos RS Guilherme, S S Bragagnolo, ... M I MI Melaragno

        Cytogenet Genome Res 134(4):325-30 (2011) PMID 21849783

        We report a patient with r(3) and ∼6-Mb distal 3p deletion. Single nucleotide polymorphism array, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization techniques revealed that the ring was formed by a break in 3p26.1 and fusion with the subtelomeric region of 3q....