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

Farrell, Sandra A.; Fan, Yunxia

doi:10.1002/ajmg.1320550408

Cited by 5 publications

(4 citation statements)

References 15 publications

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“…It is thought that the formation of Robertsonian translocations is mediated by homologous repeat sequences in the short arms of the acrocentric chromosomes [17–19]. Whole arm translocations involving non‐acrocentric chromosomes are much less common, and little is known about their origins [2,3]. Diaz‐Castaños et al .…”

Section: Discussionmentioning

confidence: 99%

“…If such homologies are involved, this may explain the predominance of 18;acrocentric whole arm translocations. Of note, the majority of constitutional whole arm translocations reported [2,3,5,21] were between chromosomes that belonged to the same alphoid suprafamily [20].…”

Section: Discussionmentioning

confidence: 99%

“…Constitutional whole arm translocations involving non‐acrocentric chromosomes are uncommon (for reviews see 2, 3), and the origin and mechanisms involved in their formation largely unknown. Several studies used fluorescence in situ hybridization (FISH) with α‐satellite probes to examine the composition of the centromeres of whole arm translocations.…”

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confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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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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“…Although chromosome 5 is frequently involved in this kind of aberrations, no hot spots for breakage have been found in this chromosome [Abuelo et al, 1988;Van Hemel et al, 1995]. However, the two 5p duplications due to insertional translocations involving the centromere of chromosome 5 [Kunze et al, 1980;present case] and the preferential participation of chromosome 5 in isochromosome formation [Fujita et al, 1994] and whole arm translocations [Farrel and Fan 1995], might suggest a nonrandom propensity for breakage and reunion of chromosome 5 centromere.…”

Section: Discussionmentioning

confidence: 71%

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

et al. 1997

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We present a case with a partial duplication 5p11-->5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed.

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Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges

et al. 2007

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We report here on 3 familial whole-arm translocations (WATs), namely the 8th instance of t(1;19)(p10;q10) and 2 novel exchanges: t(9;13)(p10;q10) and t(12;21)(p10;q10). The exchanges (1;19) and (12;21) were ascertained through a balanced carrier, whereas the t(9;13) was first diagnosed in a boy with a trisomy 9p syndrome and der(9p13p). Results of FISH analyses with the appropriate ?-satellite probes were as follows. Family 1, t(1;19): the D1Z5 probe gave a strong signal on both the normal chromosome 1 and the der(1q19p) as well as a weak signal on the der(1p19q). Family 2, t(9;13): the centromere-9 alphoid and D13Z1/D21Z1 probes under standard stringency gave no signal on the der(9p13p) in both the proband and a carrier brother, whereas the der(9q13q) was labelled only with the centromere-9 alphoid repeat in the latter; yet, this probe under low stringency revealed a residual amount of alphoid DNA on the der(9p13p) in the carrier. Family 3, t(12;21): the D12Z3 probe gave a signal on the normal chromosome 12 and the der(12p21q), whereas the D13Z1/D21Z1 repeat labelled the der(12q21p), the normal chromosome 21, and both chromosomes 13. Out of 101 WATs compiled here, 73 are distinct exchanges, including 32 instances between chromosomes with common alphoid repeats. Moreover, 7/9 of recurrent WATs involved chromosomes from the same alphoid family. Thus constitutional WATs appear to recur more frequently than other reciprocal exchanges, often involve chromosomes with common alphoid repeats, and can mostly be accounted for the great homology in alphoid DNA that favours mispairing and illegitimate nonhomologous recombination.

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

Cited by 5 publications

References 15 publications

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

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

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges

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