Results 251 to 260 of about 5,996,346 (272)

Small Supernumerary Marker Chromosomes Additionally to Other Chromosomal Rearrangements

2011
A small supernumerary marker chromosome can appear as a single chromosomal aberration or together with other genetic changes present in the corresponding patient. In this chapter, such cases are treated in detail, including loss or gain of gonosomes, trisomy 21, or other autosomal gain, microdeletions, the McClintock mechanism, other structural ...
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Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

Cytogenetic and Genome Research, 2005
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they are too small to be characterized for their chromosomal origin by traditional banding techniques, but require molecular cytogenetic techniques for their identification.
T, Liehr, K, Mrasek, A, Weise, A, Dufke, L, Rodríguez, N, Martínez Guardia, A, Sanchís, J R, Vermeesch, C, Ramel, A, Polityko, O A, Haas, J, Anderson, U, Claussen, F, von Eggeling, H, Starke   +14 more
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A boy with small supernumerary marker chromosome X identified by FISH.

Genetic counseling (Geneva, Switzerland), 2007
Marker or ring X chromosomes are frequently seen in Ullrich-Turner Syndrome with 46,X,r(X) karyotype, but only 8 children were reported with an extra marker X chromosome in at least some of their cell lines, we describe a 5 years old male patient who is mosaic (17%) for a cell line with an extra ring shaped marker X chromosome in addition to a normal ...
Karaoguz, M. Yirmbes, Karaer, K., Pala, E., PERÇİN, FERDA EMRİYE, Guecueyener, K., Koc, A., Kan, D.   +6 more
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Small Supernumerary Marker Chromosomes in Genetic Diagnostics and Counseling

2011
Generally, small supernumerary marker chromosomes (sSMC) are detected in four groups of patients: (1) prenatally studied ones (with and without sonographic abnormalities), (2) postnatally examined adults with fertility problems, (3) children and adults with unclear mental retardation, developmental delay, and/or dysmorphism, and (4) patients in which ...
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Small supernumerary marker chromosomes detected in connection with infertility.

Zhonghua nan ke xue = National journal of andrology, 2015
Infertility is known to be associated with chromosomal aberrations. Here the author reviews hitherto yet published cases of infertility identified to be carriers of small supernumerary marker chromosomes (sSMC). According to the sSMC web page (http://ssmc-tl.
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The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype

Systems Biology in Reproductive Medicine, 2015
Maurizio Margaglione, Roberta Trunzo, Rosa Santacroce   +2 more
exaly  

Characterisation of Small Supernumerary Marker Chromosomes (sSMC) in Human

Current Genomics, 2004
Thomas Liehr, Kristin Mrasek, Anja Weise, Alma Kuechler, Ferdinand Eggeling, Uwe Claussen, Heike Starke   +6 more
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Incomplete Trisomic Rescue by Chromothripsis Leads to Small Supernumerary Marker Chromosomes

The formation of small supernumerary marker chromosomes (sSMC) became much clearer during recent years. Nowadays, it is suggested that majority of all kinds of de novo sSMC (inverted duplication-, ring-, and centric-minute-shaped-ones) are products of incomplete trisomic rescue during early embryogenesis.
openaire   +2 more sources

Segregation of a supernumerary del(15) marker chromosome in sperm

Clinical Genetics, 2000
E Ko, P D Cotter, A W Rademaker
exaly  

A small supernumerary marker chromosome X identified by in situ hybridization

Clinical Genetics, 1995
Asli Silahtaroglu, Zeynep Tumer, Seher Yılmaz   +2 more
exaly