First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Trimborn, Marc; Grueters, A.; Neitzel, Heidemarie; Tönnies, Holger

doi:10.1159/000081524

Cited by 6 publications

(7 citation statements)

References 34 publications

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“…Only 15% of all SMCs are of non-acrocentric origin and the risk of phenotypic defects is estimated to be about 28% (Trimborn et al 2005). SMCs consisting of pericentric heterochromatin of chromosomes 1, 9 and 16 exert no influence on the carrier's phenotype (Callen et al 1990 (Liehr et al 2004a).…”

Section: Marker Chromosomesmentioning

confidence: 99%

“…Therefore more sophisticated approaches have been developed. The application of micro-FISH (Anderlid et al 2001;Engelen et al 2003;Trimborn et al 2005) and multicolor karyotyping technologies, such as multiplex-FISH (M-FISH), including centromere-specific multicolor FISH (cenM-FISH; Nietzel et al 2001) or spectral karyotyping (SKY) (Guanciali-Franchi et al 2004) in analysis of marker chromosomes, was demonstrated in the literature. Taking into account that approximately 80% of all SMCs derive from acrocentric chromosomes, Langer et al (2001) described a new strategy for their rapid and detailed identification.…”

Section: Marker Chromosomesmentioning

confidence: 99%

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Chromosome abnormalities without phenotypic consequences

2007

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Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Structural rearrangements of heterochromatic material, satellite polymorphism, or fragile sites, are well-known examples of common chromosome variation. However, the absence of clinical effects has also been reported in some cases of chromosome abnormalities concerning euchromatin. Such euchromatic anomalies were divided into 2 categories: unbalanced chromosome abnormalities (UBCAs), such as deletions or duplications, and euchromatic variants (EVs). Recently so-called molecular karyotyping, especially whole-genome screening by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals.

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Section: Marker Chromosomesmentioning

confidence: 99%

Section: Marker Chromosomesmentioning

confidence: 99%

Chromosome abnormalities without phenotypic consequences

2007

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“…The phenotypes of patients carrying sSMCs are thought to be mainly determined by the involved euchromatic material as well as the extent of mosaicism [Trimborn et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

“…78.8% of de novo non-acrocentric markers occur in mosaic forms [Huang et al, 2006]. The phenotypes of patients carrying sSMCs are thought to be mainly determined by the involved euchromatic material as well as the extent of mosaicism [Trimborn et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies

Fei

Zhao

et al. 2011

American J of Med Genetics Pt A

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Unstable, gene-rich pericentric regions have been associated with various structural aberrations including small supernumerary marker chromosomes (sSMCs). We hereby report on a complex pure mosaic sSMCs derived from chromosomes 11 and 19 in a child featuring multiple congenital anomalies. As indicated by microarray analysis, the sSMCs have involved materials from 11p11.12 → q12.1 and 19p12 → q12 in complex forms (with four cell lines harboring from 1 to 4 sSMCs) in all peripheral blood lymphocytes. The patient featured facial dysmorphism, generalized hypotonia, cryptorchidism, transverse palmar creases, cerebral hemorrhage, atrial septal defect secundum, strabismus, epilepsy, immunodeficiency, and severe cognitive and motor impairment. Literature review indicated this to be a unique sSMCs case simultaneously involving chromosomes 11 and 19, with one sSMC containing materials from the both chromosomes. We propose that the involved chromosomal regions may contain dosage-sensitive genes which are important for the development, and that the sSMCs derived from multiple origins have formed by a complex mechanism.

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“…In prenatally ascertained cases, the risk was estimated to be as high as 28% for marker chromosomes of non‐acrocentric chromosome origin [Buckton et al, 1985; Crolla et al, 1998]. It is widely accepted that the phenotypes of patients carrying SMCs are mainly determined by the euchromatic material involved in the SMCs and the degree of mosacisam [Trimborn et al, 2005]. Chromosome 10 is rarely involved in the formation of marker chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype

Sung

Chang

Wen

et al. 2009

American J of Med Genetics Pt A

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Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare. Only seven cases have been documented, and among those three cases were diagnosed prenatally. We reported on another prenatal diagnosis of a de novo mosaic sSMC in an apparently normal female fetus whose mother had conceived with assisted reproductive technology (ART) procedures. G-banding analysis of amniotic cells was performed. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) studies with chromosome 10-specific alphoid satellite DNA probe were used to identify the chromosome 10 origin of the sSMC. Further FISH study with telomeric sequence probes showed that the sSMC lacked a hybridization signal, suggesting that the marker could be a ring chromosome. FISH studies using BAC clone probes specific for the regions within 10p11.2, 10q11.1, and 10q11.2 showed that the short arm breakpoint was located between 29.8 and 30.7 Mb from the 10p telomere, and that the long arm breakpoint was located less than 43.6 Mb from the 10p telomere. The karyotype of the fetus was 47,XX,+mar. ish der(10)(SKY+ CEP 10+, CTD-2130I7+, RP11-89J23-)/46,XX. Oligonucleotide microarray-based copy number variations (CNV) analysis was also performed and showed a 6.7 Mb duplication from 10p11.2 to 10q11.2 (36.2-42.9 Mb) with Affymetrix SNP-array 6.0 genotype: arr cgh. 10p11.2q11.2(CN_519687 --> CN_541524) X 3. At the 1-year follow-up, the baby did not have any findings of the trisomy 10p syndrome. This observation provided further credence to the concept that additional chromosome material of proximal 10p11.2 may not contribute to the trisomy 10p syndrome phenotype.

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First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Cited by 6 publications

References 34 publications

Chromosome abnormalities without phenotypic consequences

Chromosome abnormalities without phenotypic consequences

Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies

Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype

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