Identification of the origin of centromeres in whole‐arm translocations using fluorescent in situ hybridization with α‐satellite DNA probes

Tharapel, Avirachan T.; Qumsiyeh, Mazin B.; Martens, Paula R.; Tharapel, Sugandhi A.; Dalton, James; Ward, Jewell C.; Wilroy, R. Sid

doi:10.1002/ajmg.1320400125

Cited by 19 publications

(6 citation statements)

References 18 publications

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“…Some cases of dicentric chromosomes resulting from whole-arm translocation between chromosome 18 and an acrocentric chromosome have been documented (Wang et al, 1997;McGhee et al, 2001;Rao et al, 2001). In contrast, there are some cases with one centromere originated from chromosome 18α-satellites (Tharapel et al, 1991;Taine et al, 1997) and chromosome 22 (Voiculescu et al, 1993). The present case shows dicentric signals from the two constituent chromosomes.…”

Section: Discussioncontrasting

confidence: 49%

Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

et al. 2004

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We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely.

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Section: Discussioncontrasting

confidence: 49%

Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

et al. 2004

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“…2). In contrast, the de no6o der(18;21) reported by Tharapel et al (4) contained only the chromosome 18 centromeric repeat sequences by FISH.…”

Section: Discussionmentioning

confidence: 84%

“…Several studies used fluorescence in situ hybridization (FISH) with a-satellite probes to examine the composition of the centromeres of whole arm translocations. These reported some diversity in the centromere composition of balanced and unbalanced whole arm translocations, implying different mechanisms of formation (2,4,5).…”

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confidence: 99%

Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p

McGhee

Wohlferd

et al. 2001

Clinical Genetics

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Monosomy for the short arm of chromosome 18 is one of the most frequent autosomal deletions observed. While most cases result from terminal deletion of 18p, 16% of cases reported were as a result of an unbalanced whole arm translocation resulting in monosomy 18p. The origin and structure of these derivative chromosomes were reported in only a few cases. We report the prenatal diagnosis and characterization of a new case of monosomy 18p as a result of an unbalanced whole arm translocation. Amniocentesis was performed at 15 weeks of gestation on a 34-year-old woman initially referred for advanced maternal age. Holoprosencephaly was identified by ultrasound at the time of amniocentesis. Karyotype analysis showed an unbalanced whole arm translocation between the long arm of one chromosome 18 and the long arm of one chromosome 22, 45,XX,der(18;22)(q10;q10), in all metaphases. In effect, the fetus had monosomy for 18p. Parental karyotypes were normal, suggesting a de novo origin for the der(18;22). Fluorescence in situ hybridization (FISH) analysis was performed with alpha-satellite probes D18Z1 and D14Z1/D22Z1 to identify the origin of the centromere on the der(18;22). Signal was observed with both probes, indicating that the centromere was composed of alpha-satellite DNA from both constituent chromosomes. Genotyping of the fetus and her parents with chromosome 18p STS marker D18S391 showed only the paternal 187 bp allele was present in the fetus, indicating that it was the maternal chromosome 18 involved in the der(18;22). This case and previous reports show that de novo unbalanced whole arm translocations are more likely to retain alpha-satellite sequences from the two chromosomes involved.

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“…Chromosomally abnormal liveborn probands were reported in three familial cases [Cooper et al, 1993;Tharapel et al, 1991;Cantu et al, 19921. Each had abnormalities of chromosome 18, either duplication of 18q or deletion of 18p.…”

Section: Discussionmentioning

confidence: 98%

Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review

Farrell

Fan

1995

Am. J. Med. Genet.

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We report a new de novo case of a balanced whole-arm reciprocal translocation, detected at prenatal diagnosis for late maternal age. A review of previous cases indicates there is a risk of chromosomally abnormal liveborn offspring when a parent is a carrier of this type of translocation, particularly when the translocated region is a small chromosomal segment. Due to the limited number of cases, exact reproductive risks are not available. This is the second example of such a translocation of chromosomes 1 and 5, raising the possibility of nonrandom involvement of certain chromosomes in balanced nonacrocentric whole-arm reciprocal translocations.

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Identification of the origin of centromeres in whole‐arm translocations using fluorescent in situ hybridization with α‐satellite DNA probes

Cited by 19 publications

References 18 publications

Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p

Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review

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