An interstitial nucleolus organizer region in the long arm of human chromosome 7: cytogenetic characterization and familial segregation

Guttenbach, Martina; Nassar, Nagib M. A.; Feichtinger, W.; Steinlein, Claus; Nanda, Indrajit; Wanner, Gerhard; Kerem, Batsheva; Schmid, Molly B.

doi:10.1159/000014964

Cited by 20 publications

(9 citation statements)

References 30 publications

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“…HCM-FISH showed in one step that this material was derived from an acrocentric short arm, once with and once without the NOR region. Similar reports are scarcely available in the literature (Watt et al 1984;Reddy and Sulcova 1998;Guttenbach et al 1998;Chen et al 2004). However, even such an insertion in an X chromosome was seen once (Tamagaki et al 2000).…”

Section: Discussionmentioning

confidence: 70%

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Bucksch

Ziegler

Kosayakova

et al. 2012

J Histochem Cytochem.

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SummaryA new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The so-called heterochromatin-M-FISH (HCM-FISH) probe set enables a one-step characterization of the large heterochromatic regions within the human genome. HCM-FISH closes a gap in the now available mFISH probe sets, as those do not normally cover the acrocentric short arms; the large pericentric regions of chromosomes 1, 9, and 16; as well as the band Yq12. Still, these regions can be involved in different kinds of chromosomal rearrangements such as translocations, insertions, inversions, amplifications, and marker chromosome formations. Here, examples are given for all these kinds of chromosomal aberrations, detected as constitutional rearrangements in clinical cases. Application perspectives of the probe set in tumors as well as in evolutionary cytogenetic studies are given. (J Histochem Cytochem 60:530-536, 2012) Keywords multicolor fluorescence in situ hybridization (mFISH), heterochromatin-M-FISH (HCM-FISH) probe set, heteromorphism, small supernumerary marker chromosome (sSMC), insertion, translocation Article

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Section: Discussionmentioning

confidence: 70%

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Bucksch

Ziegler

Kosayakova

et al. 2012

J Histochem Cytochem.

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“…The third variety, interstitial insertion of satellite stalks (NOR) into nonacrocentric chromosomes, as observed in the 4 relatives we described, is the least frequent. We are aware of only 6 such familial cases [Watt et al, 1984;Cosper et al, 1985;Prieto et al, 1989;Reddy and Sulcova, 1998;Guttenbach et al, 1998Guttenbach et al, , 1999. They involved chromosomes 6, 7, 8, 11, and 12, were transmitted in a dominant fashion, and had no phenotypic effect.…”

Section: Discussionmentioning

confidence: 99%

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2

Tamagaki¹,

Shima

Tomita³

et al. 2000

Am. J. Med. Genet.

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A 3-year-old boy, his 7-year-old brother, and a maternal uncle had a pure form of spastic paraplegia and a variant X chromosome with a faintly stained gap at Xq11.2. The mother of the propositus also had the variant X chromosome but was clinically unaffected. Three other unaffected females in the family did not have the variant X chromosome. The gaps in the variant X chromosome from the affected members and the mother were Ag-NOR staining positive, C-banding negative, rDNA FISH analysis positive, and alpha-satellite FISH analysis negative. The gap, therefore, represented an insertion of the nucleolus organizer region (NOR) derived from the short arm of an acrocentric chromosome. The variant X chromosome of the mother was randomly inactivated, as evidenced by BrdU replication analysis of her Epstein-Barr virus-transformed lymphoblastoid cells. Because mutations of the proteolipid protein gene at Xq21 have been responsible for a pure form of spastic paraplegia, this was also investigated but found to be negative in all affected relatives. Summing up these findings, it is proposed that the NOR insertion in the affected members of the family disrupted a hitherto unknown gene for a pure form of spastic paraplegia, situated at Xq11.2, and caused the disorder.

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“…Excluded also were complex translocations in which the IT led to an element composed of more than two different chromosome segments (see Batista et al 1994), causing so-called mixed phenotypes. Insertions of the Y chromosome heterochromatin (Ashton-Prolla et al 1997) or of the NOR regions (Guttenbach et al 1998), which are both presumed to be of no direct clinical significance, were disregarded. For the lists, only documented and karyotyped individuals were selected.…”

Section: Methodsmentioning

confidence: 99%

Interchromosomal insertions

2000

Human Genetics

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In five families with questionable chromosome rearrangements, we identified an interchromosomal insertion by fluorescent in situ hybridization (FISH). In case 1 with a dir ins (5;11)(p14;q14q24) in three generations, the mentally retarded and microcephalic proband showed a 5p14-->pter deletion. In case 2, a duplication (13)(q21.31--> q31.2) combined with a deletion (11)(q14-->q22) segregated from a reciprocal ins(11;13)(q14q122)(q21.32q31.2), causing a mixed phenotype with psychomotor retardation, caput quadratum, choanal atresia, and pes equinovarus. In case 3, a dir ins (18;5)(q21.3;p13.1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12)(q13-->q15), which had segregated from a carrier of an ins (18;12)(p11.3;q13q15). In case 5, a duplication of (10)(q26.3-->q25.2) segregated from an inv ins(5;10)(q15;q26.3q25.2), which was passed on directly from a mother to her son,with mental retardation. In all families the elucidation of the insertional translocation (IT) considerably increased the associated genetic risks of carriers. For the review, we collected data from 81 articles on 87 IT probands on ascertainment, origin, familial transmittance, progeny, and genetic risks of IT carriers. We also discussed the recombinant chromosomes and complex rearrangements associated with ITs, and listed chromosome regions occurring solely as deletions, or solely as duplications, or as both to facilitate genotype/phenotype correlations. We conclude that ITs are rare chromosomal rearrangements with an 1:80,000 incidence, of which nearly 80% were referred because of congenital abnormalities and mental retardation. A maternal origin was seen in 59.5%, a paternal origin in 26.6%, and 13.9% were de novo. No notable difference in fertility between male and female IT carriers was noticed. Bias of ascertainment was excluded in 15 familial cases and led to an estimate of the genetic risks for IT carriers of 32.0-36.0%. The mean size of the inserted regions occurring solely as duplications (n=39) measures 0.96% of the haploid autosomal length (HAL), and of regions solely occurring as deletions (n=14) 0.47% HAL. In the families where both aneusomies occurred, the size of the insertions ranged between 0.22 and 1.21% HAL. Overall, the findings fit with the general idea that a surplus of genetic material is tolerated more easily than a deficiency.

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An interstitial nucleolus organizer region in the long arm of human chromosome 7: cytogenetic characterization and familial segregation

Cited by 20 publications

References 30 publications

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2

Interchromosomal insertions

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