A case with a long arm duplication of the No. 7 chromosome.

Kadotani, Tetsuji; Kanata, Suzue; Naemura, Masako; Namba, Yoshio; Matsuo, Naomi; Watanabe, Yoko

doi:10.2183/pjab.61.131

Cited by 2 publications

(3 citation statements)

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“…Furthermore, the patient described here demonstrates a complex congenital heart defect (PDA, patent foramen ovale, stenosis of the pulmonary valve with poststenotic dilatation of the pulmonary artery, and a hypertrophy of the right ventricle), which is not typically found in partial duplication 7q. Congenital heart defects have been described only twice [1,6].…”

Section: Discussionmentioning

confidence: 99%

“… Terminal duplications: Dubosson et al [1], Kadotani et al [6], Vogel et al [16], Bartsch et al [17] (2 patients), Romain et al [8] (2 cases), Verma et al [11]. …”

Section: Case Reportmentioning

confidence: 99%

“…Pure partial duplication of the long arm of chromosome 7 is a rare structural chromosomal aberration. To the best of our knowledge, only 19 patients from 17 families with different duplicated segments have been described in the literature [1–13]. About half of these duplications were de novo events, while the others resulted from malsegregation of a predominant maternal insertion [7–9,13,14], or inversion [15], or from a maternal balanced translocation in which the short arm of an acrocentric chromosome was involved [16,17].…”

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confidence: 99%

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De novo inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis

2001

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We report on a newborn female patient with a de novo pure partial duplication of 7q. The clinical features are compared with those of 19 cases from the literature with pure partial duplication of different segments of 7q. Conventional cytogenetic investigation led to the diagnosis of duplication of bands q21.3 to q35. This was confirmed by chromosome painting and by fluorescence in situ hybridization with different YAC probes from the duplicated region.

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Section: Discussionmentioning

confidence: 99%

“… Terminal duplications: Dubosson et al [1], Kadotani et al [6], Vogel et al [16], Bartsch et al [17] (2 patients), Romain et al [8] (2 cases), Verma et al [11]. …”

Section: Case Reportmentioning

confidence: 99%

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confidence: 99%

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De novo inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis

2001

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Pre‐ and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

et al. 2001

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We report on a fetus and a newborn, both with partial trisomy 7q21-->qter due to different familial translocations, t(7;21)(q21.2;p12) and t(4;7)(q35;q21.2). Postmortem examination of the 19-week-old female fetus disclosed dysmorphic features, cleft palate, anomalies of the great vessels, intestinal malrotation and uterus bicornis. The newborn girl revealed a pattern of minor anomalies, cleft palate, cerebellar hypoplasia, and anomalies of pancreas, gall bladder and appendix. The clinical findings in three other reported fetuses with partial trisomy 7q described so far are reviewed. A duplication 7q21-->qter, as found in the propositi, has only been described in 11 patients who all had a concurrent partial monosomy. Patient 1 is particularly interesting since she is, to our knowledge, the first reported case with pure trisomy 7q21/22-->qter. We reviewed the phenotype of the previously described patients, compared it with the propositae, and summarized the clinical features of pure trisomy 7q21/22-->qter.

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A case with a long arm duplication of the No. 7 chromosome.

Cited by 2 publications

References 5 publications

De novo inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis

De novo inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis

Pre‐ and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

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