... karyotyping was performed by conventional cytogenetic techniques. For each woman, 20 G-banded metaphases were studied and in case of suspected mosaicism, analysis was extended to 100 metaphases. Results: 2,588/2,936 (88.15%) of women had a normal karyotype (46,XX), while 348/2,936 (11.85%) had an abnormal one...

...Abigail Haggerty; Joanna Spaulding; Sara Fisher; Benjamin Byers; Nicolle Mahoney; Marilu Nelson; Pamela Althof; Bhavana Dave Although Turner syndrome is most often sporadic, multigenerational recurrence has been reported more often in the offspring of women with mosaic or variant forms of Turner...

...Laura Mary; Philippe Loget; Sylvie Odent; Dominique Aussel; Gwenaelle Le Bouar; Erika Launay; Catherine Henry; Marc-Antoine Belaud-Rotureau; Sylvie Jaillard Fetal mosaicism for chromosomal rearrangements remains a challenge to diagnose, even in the era of whole-genome sequencing. We present here...

...Bela Barros; Mariana Morais; Ana Luísa Teixeira; Rui Medeiros Loss of chromosome Y (LOY) is a mosaic aneuploidy that can be detected mainly in blood samples of male individuals. Usually, LOY occurrence increases with chronological age in healthy men. Moreover, recently LOY has been reported...

...Takema Kato; Miki Kawai; Shunsuke Miyai; Fumihiko Suzuki; Makiko Tsutsumi; Seiji Mizuno; Toshiro Ikeda; Hiroki Kurahashi We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented...

... Putoux; Caroline Schluth-Bolard In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect...

..., C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y...

... analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X...

... in the trophectoderm relative to the inner cell mass (ICM). This proof-of-concept study will allow for a greater understanding of chromosomal mosaicism at the blastocyst stage and the mechanisms by which mosaicism arises. One blastocyst was held by a holding pipette and the ICM was removed. While still being held...

... to be normal, follow-up amniocentesis demonstrated a low-level mosaic trisomy 15 in cells extracted from the amniotic fluid, while 10% of cells from fetal tissues sampled after termination of the pregnancy were also found to be trisomic. Fetal autopsy showed dysmorphic features, confirming the diagnosis...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Deletion 13q Mosaicism Ring chromosome 13 SNP microarray Ring chromosomes are rare but have been detected for every human chromosome [Bedoyan et al., 2004...

...B.Y. Lee; S.Y. Kim; J.Y. Park; E.Y. Choi; D.J. Kim; J.W. Kim; H.M. Ryu; Y.H. Cho; S.Y. Park; J.T. Seo Infertile men with azoospermia commonly have associated microdeletions in the azoospermia factor (AZF) region of the Y chromosome, sex chromosome mosaicism, or sex chromosome rearrangements...

... defects in such patients. Here, we report an unusual karyotype of 45,X/46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X cell line, mosaicism of the 3 cell lines...

... (aneuploidy). Here, we highlight this challenge by the example of the very first chromosome aberration identified in the human genome, i.e. an extra chromosome 21 (trisomy 21, T21), which is causative of Down syndrome (DS). We consider it likely that most, if not all, of us are T21 mosaics, i.e. everyone...

...T. Liehr; E. Klein; K. Mrasek; N. Kosyakova; R.S. Guilherme; N. Aust; C. Venner; A. Weise; A.B. Hamid Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than...

...I. Papoulidis; M. Kontodiou; M. Tzimina; I. Saitis; A.B. Hamid; E. Klein; N. Kosyakova; U. Kordaß; J. Kunz; E. Siomou; P. Nicolaides; S. Orru; L. Thomaidis; T. Liehr; M.B. Petersen; E. Manolakos Tetrasomy 9p is a rare chromosomal syndrome and about 30% of known cases exhibit mosaicism...

... Blastocysts Chromosomal disorders Chromosomal rearrangement Cleavage stage embryo Miscarriage Single-cell array CGH Mosaicism Chromosomal rearrangements are known to occur in germ-line and somatic cells [Hastings et al., 2009] and can have devastating clinical consequences. While somatic...

...A. Mantzouratou; J.D.A. Delhanty The cleavage stage embryo (days 1–3) stands out due to the high level of chromosomal anomalies, especially mosaicism that arises prior to global embryonic genome activation. Molecular cytogenetic studies show that an average of 60% of in vitro derived embryos have...

... are also common, leading to widespread chromosomal mosaicism. The prevalence of chromosome anomalies in embryos may explain the relatively poor fertility and fecundity in humans and the low success rates of assisted reproductive treatments (e.g., IVF). While much is known concerning the incidence...

... exception may be monosomy 21, although this has been questioned, with most earlier reports of monosomy 21 recently re-interpreted as being due to an unbalanced translocation involving chromosome 21. Here we report a female infant with a mosaic trisomy 21/monosomy 21 karyotype. While the karyotype 46,XX,i(21...