Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.

Verma, Ram S.; Gogineni, Swarna; Kleyman, Svetlana M.; Conte, Robert

doi:10.1136/jmg.34.10.817

Cited by 12 publications

(9 citation statements)

References 16 publications

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“…The variable effects seen in some cases are not easily explained [Dahoun et al, 1997; Killos et al, 1997; Verma et al, 1997; Lese et al, 1998]. Individuals who carried a 4ps chromosome showed both normal and abnormal phenotypes [Estabrooks et al, 1992; Iconen et al, 1992; Hawks‐Arn et al, 1995; Chen et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

“…In other cases the phenotype was reported normal [Lucas et al, 1972; Genest, 1973; Hansmann et al, 1977; Genest, 1978, 1979; Parslow et al, 1979; Varley et al, 1981; Genest et al, 1983; Van Tuinen et al, 1983; Bauld and Ellis, 1984; Mihelick et al, 1984; Schmid et al, 1984; Babu et al, 1987; Chandley et al, 1989; Elliott and Barnes, 1992; Wilkinson and Crolla, 1993; Hawks‐Arn et al, 1995; Lin et al, 1995; O'Malley et al, 1997; Shah et al, 1997; Verma et al, 1997; Reddy, 1998; Reddy and Sulcova, 1998; Corti et al, 1999; Guttenbach et al, 1999; Storto et al, 1999; Grabowski et al, 2000; Kühl et al, 2001; Velissariou et al, 2001; Willatt et al, 2001].…”

Section: Discussionmentioning

confidence: 99%

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Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

Sarri

Douzgou

Gyftodimou

et al. 2011

American J of Med Genetics Pt A

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We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11-q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

Sarri

Douzgou

Gyftodimou

et al. 2011

American J of Med Genetics Pt A

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“…Satellited Y chromosomes represent the most common form of such translocations. Up to now 30 mostly familial cases of Yqs (reviewed in Schmid et al, 1984 andCouturier-Turpin et al, 1994;Verma et al, 1997) and one case of Yps (Lin et al, 1995) have been described. Autosomes appear to be involved even less frequently, with most cases reported on satellited chromosomes 4 (reviewed in Arn et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

“…in non-acrocentric chromosomes. The most common examples of ectopic NORs are satellited Yq chromosomes, resulting from NOR-translocations (30 cases; reviewed in Schmid et al, 1984 andCouturier-Turpin et al, 1994;Verma et al, 1997). Interstitial insertions of NORs into non-acrocentric chromosomes have been described in only three reports (Watt et al, 1984;Cosper et al, 1985;Prieto et al, 1989).…”

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confidence: 99%

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

Guttenbach

Nassar²,

Feichtinger³

et al. 1998

Cytogenet Genome Res

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An unusual NOR-bearing chromosome 7 was detected in a phenotypically normal, healthy 29-year-old male proband. Differential banding techniques as well as in situ hybridization employing various DNA-probes were performed in order to characterize the chromosome in detail. The nucleolus organizer region was found to be located between bands 7q21.3 and 7q22.1. No further rearrangements were detected in this chromosome. Analysis of spontaneously occurring micronuclei revealed 9% of them to contain a 7q fragment distal to (or including) the inserted NOR, suggesting that the inserted secondary constriction represents a potential hot spot for chromosomal breakage and rearrangement. Segregation analysis of the variant chromosome 7 in 51 members of the probands’ family showed transmission in a Mendelian fashion. 27 individuals were found to be heterozygous for the inserted chromosome. A three-year-old child in the consanguineous marriage of two heterozygous carriers exhibited the NOR-insertion in both of his chromosome 7 homologues. To our knowledge, this is the first report on a homozygous carrier of a non-acrocentric NOR-bearing chromosome.

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“…Some unusual Y chromosomes such as the Yqs have been shown to be inherited variants with no clinical consequences (Schmid et al, 1984). Several cases of Yqs chromosomes have been described in the meantime (Lin et al, 1995;Verma et al, 1997). In all cases but one (Turleau et al, 1978), the Yqs chromosome occurred within the family line and appeared to segregate without apparent phenotypic effect.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

et al. 2001

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Two rare de novo structural aberrations of the Y chromosome were detected during routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal deletion of the Y chromosome long arm del(Y)(q11). In both cases detailed cytogenetic and molecular analyses were undertaken. In the case of the Yqs it was demonstrated by fluorescence in situ hybridization (FISH) that the satellites were derived from chromosome 15. In the case of the del(Yq), it was shown with molecular analysis by polymerase chain reaction (PCR) amplification of sequence-tagged sites (STS-PCR) that the deleted portion of the long arm of chromosome Y included the azoospermia factor loci, AZFb and AZFc. The clinical significance of these findings is discussed.

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Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.

Cited by 12 publications

References 16 publications

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

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

Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

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