Small supernumerary marker chromosome
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
... Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated in reproductive problems such as recurrent ...
5
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report
... results. Chromosome analysis revealed a deletion of one chromosome 21 in q22 which explained the ...additional small supernumerary marker chromosome (sSMC) was discovered as ...
5
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
... CMA: Chromosome microarray analysis; CNVs: Copy number variations; CP: Continue the pregnancy; CVS: Chorionic villus sampling; Dn: De novo; FGR: Fetal growth restriction; FISH: Fluorescence in situ hybridization; ...
12
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
... Y chromosome and a small supernumerary marker chromosome of unknown chromosomal ...this marker chromosome appeared to be derived from one of the acrocentric chromosomes, ...
10
Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
... It is well established that about two thirds of reported sSMC are derived from acrocentric chromosomes. Accord- ing to [10] almost 70% of those acrocentric derived sSMC are inverted duplicated, dicentric derivatives, ...
7
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
... of chromosome 13 or 21 by application of the corresponding commercially available centromeric probes for #13/21 (D13/21Z1) and #15 (D15Z1); these probes were applied, as they were available in the Austral- ian ...
7
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report
... cific chromosome segments duplications is not simple, since a pure 7q partial trisomy is ...bossing, small nose, low-set ears and usually severe developmental ...derivative chromosome that arises ...
7
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis
... complete chromosome, but also from small supernumerary marker chromosomes (sSMCs) produ- cing partial trisomy ...than chromosome 20 of the same metaphase spread ...
6
Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
... Small supernumerary marker chromosomes (sSMC) are reported in 0.043% of newborn infants, 0.077% of prena- tal cases, 0.433% of mentally retarded patients and 0.171% of subfertile people [1]. They are ...
7
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling
... Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13.3-q11.2 resulting from a small SMC5. The patient has a history of prenatal polyhydramnios, dysmorphic features, ...
9
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
... each chromosome arm with a very low reso- lution, PCL-FISH is not useful for the characterization of very small SMCs that contain only tiny amounts of eu- chromatic sequence ...
12
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
... Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be iden- tified or characterized unambiguously by conventional cytogenetics alone, and they are ...
5
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report
... Small supernumerary marker chromosomes occur in ...3q supernumerary marker chromosome involving a new break point at ...The marker is characterized as ...
6
Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report
... Background: Small supernumerary marker chromosomes (sSMC) occur in ...A small group of sSMC are C-band-negative and devoid of alpha-satellite ...the chromosome 18 centromere, and ...
7
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
... This male with wide-spaced nipples, unilateral cryp- torchidism, small penis, right clubfoot and left congenital vertical talus had a peripheral blood chromosome analy- sis performed shortly after birth. ...
11
Complex small supernumerary marker chromosomes – an update
... complex marker chromosomes ...derivative chromosome 22 {der(22)t(11;22), OMIM #609029} syn- drome cases, there was identified a second recurrent complex sSMC in 2010, designated as supernumerary ...
6
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
... Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics ...novo ...
5
Genetic control of pheromones in Drosophila simulans. I. Ngbo, a locus on the second chromosome.
... Dosage effect of the second chromosome on 7-T and 7-P levels: Flies of the W parental strain, which bear Curly, a second chromosome dominant marker, and express a Seyche[r] ...
9
The Heterocyst Specific NsiR1 Small RNA Is an Early Marker of Cell Differentiation in Cyanobacterial Filaments
... Small noncoding RNAs (sRNAs) are transcribed in all groups of bacteria and are involved in every bacterial response to envi- ronmental cues. In the case of the model filamentous cyanobacte- rium Anabaena (Nostoc) ...
5
Online Full Text
... Abstract— FIB-DIC ringcore milling is an attractive semi- destructive method of measuring microscopic residual stress. Ensuring the accuracy and reliability of DIC analysis of sample surface deformation is critical for ...
5