Iris Bartels

University of Göttingen

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Peter L. M. Jansen

University of Arizona

Georg H. Merker

Heinrich Heine University Düsseldorf

Ralf Kubitz

Gundersen Lutheran Hospital

Andrew L. Wong

Pacific Heart Institute

Dieter Häussinger

Heinrich Heine University Düsseldorf

Birgit Haack

University of Tübingen

Nikolaus Blin

Wroclaw Medical University

Frank Beier

Western University

Barbara Zoll

University of Göttingen

Alexander K. C. Leung

University of Calgary

Cooperative Institutions

University of Göttingen

118

Universitätsmedizin Göttingen

Praxis für Humangenetik

Institute of Human Genetics

Jena University Hospital

German Centre for Cardiovascular Research

Heidelberg University

Friedrich Schiller University Jena

Ludwig-Maximilians-Universität München

Medizinische Hochschule Hannover

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Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation

Cytogenetic and Genome Research (2003)

Iris Bartels G. Schlueter Thomas Liehr Ferdinand von Eggeling Heike Starke

Trisomy rescue is one of various proposed mechanisms in formation of supernumerary small marker chromosomes (SMC) and uniparental disomy (UPD). In the present report a small de novo marker chromosome derived from chromosome 14 or 22 was diagnosed at prenatal diagnosis due to maternal age. Follow up investigations at birth revealed mosaicism 47,XX,+mar/46,XX. Using FISH, the marker was positive for the probe D14/22Z1, but negative for the probes midi 54 and D22Z4. Using three informative markers both chromosomes 22 were shown to be inherited from the mother (UPDmat). The results are consistent with nondisjunction at maternal meiosis I. The girl is 18 months old now and phenotypically normal. Cardiac and abdominal malformations were excluded by sonographic examinations. Motor and mental development is according to or ahead of developmental milestones (free walking with 10 months, first words at 12 months). The case confirms that maternal UPD 22 most likely is not associated with clinical abnormalities. According to FISH results, UPD 22, and 47,XX,+22 in the placenta, we conclude that the SMC was derived from alpha satellite sequences of chromosome 22. This case for the first time gives evidence that early postzygotic reduction of a chromosome to a small marker chromosome is a real existing mechanism to rescue a conceptus with trisomy.

Uniparental disomy

Marker chromosome

Nondisjunction

Trisomy

Chromosome abnormality

10.1159/000074163

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Citations (28)

Fetal alcohol syndrome in association with Rett syndrome.

PubMed (2004)

Barbara Zoll Peter Huppke A. Wessel Iris Bartels Franco Laccone

Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy. Later, she developed distinctive features of RETT syndrome including loss of early acquired developmental skills and presented typical symptoms of RETT syndrome as reduction of communication skills, reduction of hand function, hyperventilation, and grinding of teeth. Molecular analysis of the MECP2 gene revealed the c.808T>C (R270X) mutation located in the nuclear localisation signal sequence of the gene. Our report highlights the importance of considering the diagnosis of RETT syndrome even in patients who are already suffering from a defined disease.

Rett Syndrome

Microcephaly

MeCP2

Fetal Alcohol Syndrome

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Citations (6)

Down syndrome at birth not detected by first‐trimester chorionic villus sampling

American Journal of Medical Genetics (1989)

Iris Bartels I. Hansmann Ute Holland Barbara Zoll R. Rauskolb

Abstract A case of a false‐negative first‐trimester diagnosis following chorionic villus sampling is reported that ended with the birth of a child with Down syndrome. Chromosome analysis of 30 metaphases from 24 h‐cultured chorionic villi obtained in week 12 of gestation showed a normal chromosome constitution. However, the newborn showed manifestations of Down syndrome, and 99 of 100 metaphases analysed from cultured lymphocytes showed 47,XY, + 21. The remaining metaphase was normal (46,XY).

Chorionic villus sampling

Chorionic villi

10.1002/ajmg.1320340431

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Citations (20)

Jackson-Lawler

Springer eBooks (2009)

Iris Bartels Frank Beier Peter L. M. Jansen Peter L. M. Jansen Peter L. M. Jansen

10.1007/978-3-540-29676-8_5097

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Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p

European Journal of Medical Genetics (2013)

Iris Bartels I Pütz Nadine Reintjes Christian Netzer Moneef Shoukier

Premature ovarian failure

Breakpoint

SNP array

Comparative genomic hybridization

SNP

10.1016/j.ejmg.2013.06.002

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Citations (6)

Baboon induced pluripotent stem cell generation bypiggyBactransposition of reprogramming factors

Primate Biology (2019)

Ignacio Rodríguez-Polo Michael Stauske Alexander Becker Iris Bartels Ralf Dressel

Abstract. Clinical application of regenerative therapies using embryonic or induced pluripotent stem cells is within reach. Progress made during recent years has encouraged researchers to address remaining open questions in order to finally translate experimental cell replacement therapies into application in patients. To achieve this, studies in translationally relevant animal models are required to make the final step to the clinic. In this context, the baboon (Papio anubis) may represent a valuable nonhuman primate (NHP) model to test cell replacement therapies because of its close evolutionary relationship to humans and its large body size. In this study, we describe the reprogramming of adult baboon skin fibroblasts using the piggyBac transposon system. Via transposon-mediated overexpression of six reprogramming factors, we generated five baboon induced pluripotent stem cell (iPSC) lines. The iPSC lines were characterized with respect to alkaline phosphatase activity, pluripotency factor expression analysis, teratoma formation potential, and karyotype. Furthermore, after initial cocultivation with mouse embryonic fibroblasts, we were able to adapt iPSC lines to feeder-free conditions. In conclusion, we established a robust and efficient protocol for iPSC generation from adult baboon fibroblasts.

Reprogramming

Transposition (logic)

10.5194/pb-6-75-2019

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Citations (13)

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion

American Journal of Medical Genetics Part A (2006)

Detlef Böhm Kirsten Hoffmann Franco Laccone B. Wilken Peter Dechent

We report on a young woman with Jacobsen syndrome (JBS) who was admitted to our psychiatric department because of a bipolar affective disorder (BPAD). Chromosome analysis was performed due to the fact that she had mental retardation, short stature, and subtle facial anomalies. A deletion of the distal long arm of chromosome 11 was found. A detailed mapping of the deletion breakpoint by quantitative real time PCR revealed a true terminal 11q deletion of approximately 8 Mb corresponding to the karyotype 46,XX,del(11)(q24.2). Polymorphic DNA marker analysis showed that the deletion is located on the paternal chromosome. Additionally, laboratory investigations revealed a low platelet count and magnetic resonance imaging of the brain showed white matter T2 hyperintensities in frontotemporal regions, which are unlikely to result from a demyelinating process as indicated by localized proton magnetic resonance spectroscopy. To our knowledge, this is the first report describing a BPAD in a case with JBS.

Breakpoint

Proton magnetic resonance

10.1002/ajmg.a.31088

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Citations (16)

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

International Journal of Molecular Medicine (2007)

Marina Manvelyan Isolde Schreyer I. Höls-Herpertz Sascha Köhler R. Niemann

A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal regions were involved. Thus, this study confirmed the presence of abnormal karyotypes in a subgroup of patients seeking infertility treatment. Breaks were demonstrated to appear preferentially in GTG-light bands in these patients. Furthermore, the observed breakpoints were associated with genomic regions prone to instability due to the presence of segmental duplications. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.

Breakpoint

Robertsonian translocation

Molecular cytogenetics

Chromosomal rearrangement

Chromosomal inversion

10.3892/ijmm.19.6.855

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Citations (34)

Directed Self-Organization of Human and Non-Human Primate Heart Muscle Organoids from Pluripotent Stem Cells

SSRN Electronic Journal (2019)

James E. Hudson Farah Raad Malte Tiburcy Angelica Roa Mei-Ling Chang Liao

Pluripotent stem cells (PSCs) can differentiate into all somatic cell lineages, but fail to form functional macro-scale heart muscle organoids in monolayer, suspension, or aggregate cultures. Here we show that human and non-human primate (NHP) PSCs have the capacity to self-organize into bioengineered heart muscle (BHM) if exposed to a serum-free cardio-instructive collagen-hydrogel environment with defined temporarily restricted growth factor, small molecule, and mechanical stimulation. BHMs traversed through distinct developmental stages with molecular signatures representative for: (i) mesoderm induction (3 days), (ii) cardiac specification (+10 days), and (iii) cardiac maturation (+9 days). Matured BHM responded to electrical pacing, preloading, inotropic stimuli and pharmacological agents similar to bona fide myocardium. We further demonstrate the applicability of BHM in modelling of Noonan Syndrome associated with Raf1 mutations. Collectively, we provide proof-of-concept for directed assembly of human and NHP PSCs into force-generating macro-scale myocardial organoids for applications in simulations of heart development and disease.

Organoid

Human heart

10.2139/ssrn.3318931

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Citations (2)

Subject Index Vol. 1, 2007

Sexual Development (2007)

Ichiro Miura Virpi Töhönen W. Traut Ken Sahara František Marec

genes 207, 286 Chicken sex determination 279 Chromosome(s) 161 -aberrations 347 Coelomic epithelium 238, 271 Comparative genomics 211 Cystatin type 2 family

10.1159/000113893

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Citations (0)