Identification of a break-prone structure in the 9q1 heterochromatic region

Mamuris, Zissis; Aurias, Alain; Dutrillaux, Bernard

doi:10.1007/bf00202405

Cited by 7 publications

(4 citation statements)

References 20 publications

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“…In addition, all the 9qh region was on the 3q9q translocation chromosome suggesting that the breakpoint on chromosome 9 must be at 9qll very near to the centromere. This is consistent with the propensity to breakage reported for 9qh in different conditions.9 10 In conclusion, the study of this patient emphasises how the combination of classical cytogenetic techniques with the resolution power of FISH allows the definition with more accuracy of the breakpoints and the origin of centromeres in this type of translocation.…”

Section: Discussionsupporting

confidence: 88%

Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.

Blanco

Loeza²,

Carnevale³

1994

Journal of Medical Genetics

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A patient with Turner phenotype was found to carry two de novo chromosome aberrations: a 45,X line and a whole arm reciprocal translocation t(3;9). Fluorescence in situ hybridisation on metaphase cells using a satellite DNA for chromosome 3 and P satellite and 'classical' satellite DNA for chromosome 9 showed that the centromeric region of chromosome 3 was retained in the 3q9q translocation derivative, as was the secondary constriction heterochromatin of chromosome 9. No signals were observed in the 3p9p derivative with the three probes. This suggests that the breakpoints were on 3pll and 9qll. The karyotype was 45,X,t(3;9)(3qter-+3pl l::9ql 1 -9qter; 9pter-+9q1l::3pl1 -3pter). (J Med Genet 1994;31:74-75) Constitutional whole arm reciprocal translocations are rare. To our knowledge only a few cases have been reported. "Most of them were found in phenotypically normal subjects and some in patients with reproductive failure.46 In contrast, whole arm translocations are not uncommon in cancer cells where fluorescence in situ hybridisation (FISH) has been used to obtain more information on the breakpoints and involvement of centromeric DNA sequences in the chromosome rearrangements.78We report a patient with 45,X Turner syndrome and a whole arm reciprocal translocation t(3;9) where in situ hybridisation studies, combined with cytogenetic analysis, allowed us to define the breakpoints and the origin of centromeres in the derivative chromosomes. Case report A 19 year old female was referred because of short stature and absence of secondary sexual characteristics. She was the eighth child of healthy, unrelated parents. At birth, oedema of the hands and feet was noted and at 10 years of age the parents were concerned about her short stature. Physical examination showed a height of 1 36 m, multiple naevi, a short neck, broad chest with widely spaced nipples, cubitus valgus, and shortening of the fourth metacarpal and metatarsal bones. Intelligence was average. Cytogenetic studies of peripheral blood with G banding showed two chromosome aberrations: 45,X and a whole arm reciprocal translocation between chromosomes 3 and 9 (fig 1). The proposed karyotype was 45,X,t(3;9)(3p9p;3q9q). C banding showed that 9qh heterochromatic region was retained on the der(3q9q); however, the precise breakpoints at the centromeres or on p or q could not be defined.Chromosome studies of both parents were normal.

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Section: Discussionsupporting

confidence: 88%

Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.

Blanco

Loeza²,

Carnevale³

1994

Journal of Medical Genetics

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“…In these disorders, genes responsible for cell cycle regulation and/or DNA repair are defective; as a result, affected individuals have a higher risk of malignancies [Varon et al, 1998; Neff et al, 1999; Dokal, 2000; Kraemer, 2000; Zhou and Elledge, 2000; van Gent et al, 2001]. In addition, chromosomal instability resulting in hemizygous subclones via somatic recombination was suggested by Mamuris et al [1991], who observed that the majority of cells with deletions in the heterochromatic region in both controls and a 9qh+ donor were at 9q12. If this occurred, however, phenotypic consequences of the abnormal gene would probably be manifested in heterozygous carriers.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal fragility in patients with triple A syndrome

Reshmi-Skarja

Huebner

Handschug

et al. 2002

American J of Med Genetics Pt A

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Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been identified in triple A syndrome patients; however, the function of this gene is still obscure. We used classical and high-resolution chromosome analyses along with chromosome painting and DNA sequencing to study patients with triple A syndrome. We observed abnormalities in the heterochromatic region of chromosome 9 that included chromatid breaks, chromosome breaks, whole chromosome arm loss, and marker chromosomes, which occurred at unusually high frequencies in affected patients and heterozygotes. Our study raises the possibility of an association between chromosomal fragility in band 9q12 and triple A syndrome. Further investigation is necessary to understand the biologic basis of this finding in the context of triple A syndrome.

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“…The rearrangement could have involved sister chromatids of 9p. However, breakage of chromosome 9 appears to occur most frequently in the 9q1 region [Mamuris et al, 1991]. Thus, it is possible that breakage could have occurred in the short arm of a chromosome 9, bearing an inversion of the 9qh heterochromatic segment.…”

Section: Discussionmentioning

confidence: 99%

An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences

et al. 1997

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Recently, we studied a patient with minor abnormalities and an apparently acentric marker chromosome who carried a deleted chromosome 9 and a marker chromosome in addition to a normal chromosome 9. The marker was stable in mitosis but lacked a primary constriction. The origin of the marker was established by fluorescent in situ hybridization (FISH) using a chromosome 9 painting probe. Hybridization of unique sequence 9p probes localized the breakpoint proximal to 9p13. Additional FISH studies with all-human centromere alpha satellite, chromosome 9 classical satellite, and beta satellite probes showed no visible evidence of these sequences on the marker [Curtis et al.: Am J Hum Genet 57:A111, 1995]. Studies using centromere proteins (CENP-B, CENP-C, and CENP-E) were performed and demonstrated the presence of centromere proteins. These studies and the patient's clinical findings are reported here.

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Identification of a break-prone structure in the 9q1 heterochromatic region

Cited by 7 publications

References 20 publications

Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.

Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.

Chromosomal fragility in patients with triple A syndrome

An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences

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