Prenatal diagnosis of interstitially satellited 6p

Chen, Chih‐Ping; Chern, Schu‐Rern; Lee, Chen‐Chi; Chen, Wenlin; Wang, Wayseen

doi:10.1002/pd.911

Cited by 11 publications

(8 citation statements)

References 12 publications

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“…There are also reports identifying a satellite structure on other non-acrocentric chromosomes [Dev et al, 1979;Verma et al, 1979;Varley et al, 1981;Kucerova et al, 1983;van Tuinen et al, 1983;Schmid et al, 1984;Stetten et al, 1986;Harada et al, 1989;Arn et al, 1995;Faivre et al, 1999;Guttenbach et al, 1999;Storto et al, 1999;Lee et al, 2001;Willatt et al, 2001;Ki et al, 2003;Chen et al, 2004a,b] with one report on 15q which occurred as a mosaicism with ring chromosome 15 [Smith et al, 1991]. The majority of cases are familial and are detected during prenatal diagnosis [Chen et al, 2000[Chen et al, , 2004aLee et al, 2001]. Some cases had normal outcomes while others resulted in abnormal newborns depending on whether there was any significant material loss from non-acrocentric chromosomes.…”

Section: Discussionmentioning

confidence: 93%

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Rujirabanjerd

Suwannarat

Sripo

et al. 2007

American J of Med Genetics Pt A

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We report on a case of satellited 15q with subtelomeric deletion in a girl with delayed development and severe growth retardation. The patient also has a triangular face, downturned angles of the mouth, micrognathia, and minor limb malformations including mild talipes equinovarus, genu recurvatum, and increased dorsiflexion of both limbs. Cytogenetic analysis using standard GTG banding showed a female karyotype with a satellited-like structure at the distal long arm of one chromosome 15. Silver staining of the nucleolar organizing region (AgNOR) confirmed the presence of a satellite DNA translocation at the lesion. Analysis using fluorescent in situ hybridization (FISH) detected a subtelomeric deletion of the terminal 15q. Additional molecular analysis using microsatellite markers along the long arm of chromosome 15 defined a maximally deleted region at approximately 4.7 Mb. Haploinsufficiency of the IGF1R gene expression is thought to be the cause of growth delay in all 15q terminal deletion including our patient.

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Section: Discussionmentioning

confidence: 93%

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Rujirabanjerd

Suwannarat

Sripo

et al. 2007

American J of Med Genetics Pt A

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“…It is thought that the DNA sequence in the short arms of acrocentric chromosomes is more likely to recombine with the sequence in the terminal 4q [Miller et al, 1995]. There are also reports identifying a satellite structure on other non‐acrocentric chromosomes [Dev et al, 1979; Verma et al, 1979; Varley et al, 1981; Kucerova et al, 1983; van Tuinen et al, 1983; Schmid et al, 1984; Stetten et al, 1986; Harada et al, 1989; Arn et al, 1995; Faivre et al, 1999; Guttenbach et al, 1999; Storto et al, 1999; Lee et al, 2001; Willatt et al, 2001; Ki et al, 2003; Chen et al, 2004a,b] with one report on 15q which occurred as a mosaicism with ring chromosome 15 [Smith et al, 1991]. The majority of cases are familial and are detected during prenatal diagnosis [Chen et al, 2000, 2004a; Lee et al, 2001].…”

Section: Discussionmentioning

confidence: 99%

“…This type of translocation has been reported either as rare familial polymorphisms having no phenotypic effect or de novo translocations with chromosomal loss causing abnormalities. There are several previous reports of satellited autosomes [Parslow et al, 1979; Verma et al, 1979; Watt et al, 1984; Harada et al, 1989; Estabrooks et al, 1992; Arn et al, 1995; Willatt et al, 2001; Ki et al, 2003; Chen et al, 2004a,b]. The most frequent satellited variant autosomes reported to date is chromosome 4 (4qs) [Estabrooks et al, 1992; Arn et al, 1995; Miller et al, 1995; Guttenbach et al, 1999].…”

Section: Introductionmentioning

confidence: 96%

Abrasion resistance of oxidized zirconium in comparison with CoCrMo and titanium nitride coatings for artificial knee joints

et al. 2010

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Most total knee replacement joints consist of a metal femoral component made from a cobalt-chromium- molybdenum (CoCrMo)-alloy and a tibial component with an ultrahigh molecular weight polyethylene (UHMWPE) bearing surface. Wear of the UHMWPE remains the primary disadvantage of these implants. The allergic potential ascribed to CoCrMo-alloys is a further concern. Other metallic alloys with and without ceramic coatings are clinically used to avoid these problems. This study compared the mechanical surface properties of an oxidized zirconium alloy with those of cast and wrought CoCrMo and TiAlV6-4. Additionally, the influence of a titanium nitride (TiN)-plasma coating on the surface properties was investigated. The composition of the oxidized zirconium layer was analyzed. Micro- and macrohardness tests as well as adhesion tests were used to reveal material differences in terms of their abrasive wear potential in artificial joints.

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“…Interstitially satellited chromosomes were reported by Reddy and Sulcova (1998): chromosome 21 with additional material on its short arm, chromosome 7 with NOR insertion in the p arm, and chromosome 2 with satellites at the end of the q arm. A case of interstitially satellited 6ps chromosome was reported by Chen et al (2004).…”

Section: Variants and Structural Rearrangements Of Harmless Materials mentioning

confidence: 99%

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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Prenatal diagnosis of interstitially satellited 6p

Cited by 11 publications

References 12 publications

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

Abrasion resistance of oxidized zirconium in comparison with CoCrMo and titanium nitride coatings for artificial knee joints

Chromosome abnormalities without phenotypic consequences

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