De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Back, Elke; Toder, Roland; Voiculescu, I.; Wildberg, A.; Schempp, Werner

doi:10.1111/j.1399-0004.1994.tb04035.x

Cited by 13 publications

(11 citation statements)

References 20 publications

(18 reference statements)

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“…The proband in the present investigation has shown only a few characteristic clinical features consistent with the earlier reported cases of tetrasomy 18p (Singer et al 1990;Yu et al 1993;Back et al 1994;Eggermann et al 1997). This great variability of phenotypes could be a result of the different genetic content of the i(18p) in the present case.…”

supporting

confidence: 78%

“…The first case of i(18p) was reported by Froland et al (1963), which was followed by reports on few familial cases (Taylor et al 1975;Takeda et al 1989) and few mosaic cases of i(18p) (Gocke et al 1986;Abeliovich et al 1993;Back et al 1994;Pinto et al 1998). The majority of the i(18p) cases reported so far are sporadic due to de novo formation (Fujita and Fujita 1975;Fryns et al 1990;Singer et al 1990;Back et al 1994;Eggermann et al 1996). However, most of the reported familial cases of i(18p) were found to be of maternal origin (Kotzot et al 1996;Bugge et al 1996;Irwin et al 2003), with only one case of paternal origin (Eggermann et al 1997).…”

mentioning

confidence: 99%

“…(Singer et al 1990;Yu et al 1993;Back et al 1994;Eggermann et al 1997). The conventional banding technique allows only a first step of diagnosis of isochromosomes, whereas fluorescence in situ hybridization (FISH) is the most common, rapid and reliable technique used to delineate isochromosomes.…”

mentioning

confidence: 99%

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De novo isochromosome 18p in a female dysmorphic child

et al. 2006

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Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX+i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.

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confidence: 78%

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confidence: 99%

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De novo isochromosome 18p in a female dysmorphic child

et al. 2006

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“…Standard chromosome preparation methods were applied to CD133 + and MSCs cultures according to Back et al [22] Conventional AgNO 3 staining of the nucleolus organizing regions (NORs) was performed.…”

Section: Karyotype Analysesmentioning

confidence: 99%

Mesenchymal Stromal Cells Can Be Derived From Bone Marrow CD133⁺Cells: Implications for Therapy

Pozzobon

Piccoli²,

Ditadi³

et al. 2009

Stem Cells and Development

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It is known that the bone marrow (BM) CD133(+) cells play an important role in the hematopoietic compartment, but this is not their only role. The cells indeed can take part in vascular reconstitution when they become endothelial cells (EC), in skeletal muscle fiber regeneration when there is a switch in muscle precursors, and to cardiomyocyte phenotypic conversion when differentiating in cardiomyocytes-like cells. While the role in hematopoiesis and vasculogenesis of the selected cells is well established, their ability to differentiate along multiple non-EC lineages has not yet been fully elucidated. The goal of this study is to assert whether human CD133(+)BM-derived cells are able to differentiate in vitro, besides to blood cells, cell lineages pertinent to the mesoderm germ layers. To this end, we isolated CD133(+) cells using a clinically approved methodology and compared their differentiation potential to that of hematopoietic progenitor cells (HPCs) and mesenchymal stem cells (MSCs) obtained from the same BM samples. In our culture conditions, CD133 expression was consistently decreased after passage 2, as well as the expression of the stemness markers c-kit and OCT4, whereas expression of Stage Specific Embryonic Antigen 4 (SSEA4) remained consistent in all different conditions. Expanded CD133 were also positive for HLA-ABC, but negative for HLA-DR, in accordance with what has been previously reported for MSCs. Moreover, CD133(+) cells from human BM demonstrated a wide range of differentiation potential, encompassing not only mesodermal but also ectodermal (neurogenic) cell lineages. CD133 antigen could be potentially used to select a cell population with similar characteristics as MSCs for therapeutic applications.

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“… Abeliovich et al 1993, Back et al 1994, Bakshi et al 2006, Balicek et al 1976, Balkan et al 2009, Batista et al 1983, Blennow and Nielson 1991, Blennow et al 1995, Boyle et al 2001, Bugge et al 1996, Callen et al 1990, Cote et al 1979, Condron et al 1974, DeBerardinis et al 2005, Eggermann et al 1997, Esmer et al 1994, Fryns et al 1985, 1990, Kleckzkowska et al 1986, Kotzot et al 1996, Mewar et al 1993, Nielsen et al 1978, Ogata et al 1977, Park et al 1991, Ramegowda et al 2006, Rauch et al 1992, Rivera et al 1984, Rocchi et al 1979, Singer et al 1990, Swingle et al 2006, Takeda et al 1989, Tangheroni et al 1973, Taylor et al 1975. …”

Section: Introductionmentioning

confidence: 99%

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Sebold

Roeder

Zimmerman

et al. 2010

American J of Med Genetics Pt A

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Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.

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De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Cited by 13 publications

References 20 publications

De novo isochromosome 18p in a female dysmorphic child

De novo isochromosome 18p in a female dysmorphic child

Mesenchymal Stromal Cells Can Be Derived From Bone Marrow CD133⁺Cells: Implications for Therapy

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

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De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Cited by 13 publications

References 20 publications

De novo isochromosome 18p in a female dysmorphic child

De novo isochromosome 18p in a female dysmorphic child

Mesenchymal Stromal Cells Can Be Derived From Bone Marrow CD133+Cells: Implications for Therapy

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

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Mesenchymal Stromal Cells Can Be Derived From Bone Marrow CD133⁺Cells: Implications for Therapy