Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes

Wilkinson, Tracy A.; Crolla, John A.

doi:10.1007/bf00217364

Cited by 15 publications

(6 citation statements)

References 15 publications

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“…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%

“…Wilkinson and Crolla [1993] described three families with t(15;Y)(ps;qter) without any phenotypic abnormalities.…”

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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“…This fact has been related to the frequent association observed between the synaptonemal complexes of these two chromosomes [Metzler-Guillemain et al 1999]. A degree of homology between the p-arm sequences 0.00 0.29 3.01 [Chen et al 2007] of some acrocentric chromosomes (13, 14, 15, and 21) and the Xp/Yq subtelomeric region [Brown et al 1990;Smeets et al 1991;Stergianou et al 1992;Wilkinson and Crolla 1993;Ciccodicola et al 2000;Kuhl et al 2001] has been described. This could also explain some of the associations observed between these chromosomes at the pachytene stage [Codina-Pascual et al 2006].…”

Section: Robertsonian Translocation Carriersmentioning

confidence: 92%

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Antón¹,

Vidal

Blanco

2011

Systems Biology in Reproductive Medicine

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Structural reorganization carriers usually present compromised fertility accompanied by an increased risk of producing gametes with chromosomal abnormalities that can be transmitted to the offspring. In part these imbalances are ascribed to result from the occurrence of meiotic disturbances produced by the rearrangements in the proper segregation of other chromosome pairs. This phenomenon of interference has been called interchromosomal effect (ICE). Several studies have been performed to assess the occurrence of ICE in structural reorganization carriers by analyzing the frequencies of numerical abnormalities in the gametes. Nevertheless, the occurrence and distribution of these disturbing events still is a controversial issue. In this work we present compiled data from 130 sperm fluorescent in situ hybridization (FISH) studies performed in carriers of the most frequent structural rearrangements in humans: 44 Robertsonian translocations, 66 reciprocal translocations and 13 inversions. Data from 7 complex/multiple rearrangements will be considered in a separate group. Significant increases of gametes with numerical abnormalities have been detected in all types of reorganization carriers. Among the groups of non-complex/multiple rearrangements, Robertsonian translocations appear to be the most prone to produce such interference (54.5%) closely followed by reciprocal translocations (43.9%). In contrast, ICE's were only detected in 7.7% of the inversion carriers analyzed. The presence of complex/multiple rearrangements seems to be an important factor for promoting ICE, as 71.4% of these carriers presented increased rates of gametes with numerical abnormalities. Altogether, almost half of the structural reorganization carriers (45.4%) present a higher reproductive risk of producing aneuploid/diploid spermatozoa compared to the general population. This high incidence has been obtained by analyzing a small set of chromosomes, suggesting that underlying meiotic disorders could be present in these individuals. Further ICE studies in structural reorganization carriers will help to clarify the still unknown predisposing cytogenetic features that promote this phenomenon.

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“…It consists of tandemly arranged imperfect repeats of 5 0 AATGG 3 0 similar to other satellite III sequences, and comprises the major part of the heterochromatin of the chromosome 15 short arm. D15Z1 is used for supernumerary marker chromosome identification and Y;15 translocations 5 We present a study of 1657 patients, who we examined as part of ongoing studies of chromosome abnormalities involving the pericentromeric regions of the acrocentric chromosomes with particular focus on couples ascertained because of three or more pregnancy losses. 10 We used fluorescent in situ hybridization (FISH) with D15Z1, to investigate the distribution of the 15p11 polymorphism amongst four different and distinct groups of patients.…”

Section: Introductionmentioning

confidence: 99%

Distribution of the D15Z1 copy number polymorphism

2007

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Using fluorescent in situ hybridization (FISH) with the probe p15 (D15Z1), we investigated the distribution of the polymorphic 15p signal which has been reported to occur on acrocentric chromosomes in addition to chromosome 15. The short arm of chromosome 15 has a characteristic signal pattern when hybridized with the FISH probe D15Z1. However, the D15Z1 signal can occasionally be seen on the short arm of other acrocentric chromosomes. We studied the distribution of the D15Z1 probe in 1657 patients consisting both of individuals with a normal karyotype and those with a variety of chromosome abnormalities involving the acrocentric chromosomes. Our results show that one in six individuals, regardless of their patient ascertainment category or karyotypic status, had one or more additional D15Z1 signals, and that there were no significant differences in the distribution of extra signals among the patient groups.

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Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes

Cited by 15 publications

References 15 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

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Distribution of the D15Z1 copy number polymorphism

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