Výsledky vyhledávání - "Eva Daumiller"

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum

Autor: Anna Lena Burgemeister, Gabriele du Bois, Eva Daumiller, Birgit Köhler, Susanne Knecht, Birgit Zirn, Luitgard Graul-Neumann, Stefan Burgemeister, Martin H. Maurer, Sarah Gronwald

49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and speech dyspraxia are cardinal symptoms. Testicular insufficiency becomes apparent during adol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e090f8fbbc80f1d12aa472626c8094e

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Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature

Autor: Clemens Freiberg, Christine Klett, Ilona Dietze-Armana, Izabela Centonze, Günther Rettenberger, Birgit Zirn, Michael Lingen, Karl Mehnert, Wiebke Stark, Eva Daumiller, Anna Lena Burgemeister

Publikováno v: American journal of medical genetics. Part A. 173(3)

Constitutional ring chromosomes can be found for all human chromosomes and are very rare chromosomal abnormalities. A complete ring chromosome without loss of genetic material results from fusion of subtelomeric regions or telomere-telomere fusion. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5e6da5908dc2b91457590e9e95d4f6
https://pubmed.ncbi.nlm.nih.gov/28127864

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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

Autor: Edward J. Hollox, Ute Klein-Vogler, Thomas Liehr, John A.L. Armour, Annegret Stuke-Sontheimer, John C. K. Barber, Eva Daumiller, Andreas Dufke, Viv K. Maloney, Gabi du Bois

Publikováno v: European Journal of Human Genetics. 13:1131-1136

It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay and heart defects. Here, we provide evidence for b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230debf6a1cd35ff7d344f7080148305
https://doi.org/10.1038/sj.ejhg.5201475

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Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)—case report and review of the literature

Autor: Hildegard Kehrer-Sawatzki, Eva Daumiller, Jutta Müller-Navia, Eva Rossier, Gotthold Barbi, Heidemarie Kendziorra, Gabriele du Bois

Publikováno v: Prenatal Diagnosis. 25:954-959

Objectives To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Onl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a1c63cdf669e7fb335134a3e56a4aab
https://doi.org/10.1002/pd.1252

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Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature

Autor: Hildegard, Kehrer-Sawatzki, Eva, Daumiller, Jutta, Müller-Navia, Heidemarie, Kendziorra, Eva, Rossier, Gabriele, du Bois, Gotthold, Barbi

Publikováno v: Prenatal diagnosis. 25(10)

To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Only four pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6d2817f0e812aad3a85634ee953f31b0
https://pubmed.ncbi.nlm.nih.gov/16088867

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