Isochromosome (18q) in siblings*

Krüger, Gabriele; Götz, Jürgen; Dunker, Helmut; Pelz, L

doi:10.1111/j.1399-0004.1987.tb03308.x

Cited by 19 publications

(1 citation statement)

References 6 publications

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“…Parental origins of de novo isochromosomes are equally divided between maternal and paternal origin. Recurrence of isochromosomes in siblings is extremely rare and probably results from undetected parental mosaicism [Kruger et al, 1987]. Short‐arm isochromosome formation in conjunction with translocation of the long arm has been reported to occur for a number of chromosomes resulting in functional trisomy for the p‐arm segments.…”

Section: Discussionmentioning

confidence: 99%

The polyvinyl alcohol–bacterial cellulose system as a new nanocomposite for biomedical applications

2006

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Finding materials suitable for soft tissue replacement is an important aspect for medical devices design and fabrication. There is a need to develop a material that will not only display similar mechanical properties as the tissue it is replacing, but also shows improved life span, biocompatibility, nonthrombogenic, and low degree of calcification. Polyvinyl alcohol (PVA) is a hydrophilic biocompatible polymer with various characteristics desired for biomedical applications. PVA can be transformed into a solid hydrogel with good mechanical properties by physical crosslinking, using freeze-thaw cycles. Hydrophilic bacterial cellulose (BC) fibers of an average diameter of 50 nm are produced by the bacterium Acetobacter xylinum, using a fermentation process. They are used in combination with PVA to form biocompatible nanocomposites. The resulting nanocomposites possess a broad range of mechanical properties and can be made with mechanical properties similar to that of cardiovascular tissues, such as aorta and heart valve leaflets. The stress-strain properties for porcine aorta are matched by at least one type of PVA-BC nanocomposite in both the circumferential and the axial tissue directions. A PVA-BC nanocomposite with similar properties as heart valve tissue is also developed. Relaxation properties of all samples, which are important for cardiovascular applications, were also studied and found to relax at a faster rate and to a lower residual stress than the tissues they might replace. The new PVA-BC composite is a promising material for cardiovascular soft tissue replacement applications.

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Section: Discussionmentioning

confidence: 99%

The polyvinyl alcohol–bacterial cellulose system as a new nanocomposite for biomedical applications

2006

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Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination

et al. 1999

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An amniocyte culture was found to be mosaic for 45,X/46,X, idic(X)(p11.2)/ 47,X, idic(X)(p11.2),idic(X)(p11.2) cell lines, reflecting mitotic nondisjunction of the idic(X)(p11.2) chromosome. Upon learning of abnormal karyotype and ultrasound findings, the parents decided to discontinue the pregnancy. Subsequent cultures of fetal skin, kidney, and lung were mosaic 45,X/46,X,idic(X)(p11.2) reflecting mitotic loss of the unstable idic(X)(p11.2) chromosome. C-banding and in situ hybridization of X chromosome-specific alpha-satellite probe to metaphase fetal cells confirmed two centromeres on the idic(X)(p11.2) chromosome with both centromeres appearing to be active in two-thirds of cells. This result was confirmed by centromere protein-E (CENP-E) antibody staining which delineated 80% of scored cells with two active centromeres and 20% with 1 active centromere. Bromodeoxyuridine (BrdU) incorporation and acridine orange staining characterized the DNA replication pattern of the idic(X)(p11.2) chromosome as late and symmetrically replicating. Polymerase chain reaction analysis of highly polymorphic loci determined that the normal X chromosome carried paternal alleles and the idic(X)(p11.2) chromosome carried maternal alleles from only one grandparental chromosome. Overall, the results suggest that recombination occurred between two maternal sister chromatids both in the same chromosome band Xp11.2 (isolocal) prior to maternal meiosis II anaphase to generate an unstable maternal idic(X)(p11.2) chromosome. Additional factors that could contribute to i(Xq) and idic(X) formation and instability are discussed along with a mechanism to explain the high frequency of intrauterine loss in 45,X pregnancies.

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i(18q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING: CYTOGENETICS AND PATHOLOGY

et al. 1996

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Isochromosome (18q) in siblings*

Abstract: A report is presented on a familial occurrence of isochromosome (18q) in a newborn infant and in a fetus in the 24th week of gestation after amniocentesis.

Cited by 19 publications

References 6 publications

The polyvinyl alcohol–bacterial cellulose system as a new nanocomposite for biomedical applications

The polyvinyl alcohol–bacterial cellulose system as a new nanocomposite for biomedical applications

Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination

i(18q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING: CYTOGENETICS AND PATHOLOGY

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