Prenatal diagnosis of a partial 8p trisomy

A. Pezzolo, M. P. Bicocchi, C. Zampatti, C. Cuoco, G. Gimelli

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;p11). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.

Original languageEnglish
Pages (from-to)533-538
Number of pages6
JournalPrenatal Diagnosis
Volume10
Issue number8
Publication statusPublished - 1990

Fingerprint

Trisomy
Prenatal Diagnosis
Fetus
Amniocentesis
Karyotype
Aortic Valve
Chromosome Aberrations
Communication
Mothers
Phenotype
Pregnancy
Lung
Trisomy 8p Chromosome 8

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Pezzolo, A., Bicocchi, M. P., Zampatti, C., Cuoco, C., & Gimelli, G. (1990). Prenatal diagnosis of a partial 8p trisomy. Prenatal Diagnosis, 10(8), 533-538.

Prenatal diagnosis of a partial 8p trisomy. / Pezzolo, A.; Bicocchi, M. P.; Zampatti, C.; Cuoco, C.; Gimelli, G.

In: Prenatal Diagnosis, Vol. 10, No. 8, 1990, p. 533-538.

Research output: Contribution to journalArticle

Pezzolo, A, Bicocchi, MP, Zampatti, C, Cuoco, C & Gimelli, G 1990, 'Prenatal diagnosis of a partial 8p trisomy', Prenatal Diagnosis, vol. 10, no. 8, pp. 533-538.
Pezzolo A, Bicocchi MP, Zampatti C, Cuoco C, Gimelli G. Prenatal diagnosis of a partial 8p trisomy. Prenatal Diagnosis. 1990;10(8):533-538.
Pezzolo, A. ; Bicocchi, M. P. ; Zampatti, C. ; Cuoco, C. ; Gimelli, G. / Prenatal diagnosis of a partial 8p trisomy. In: Prenatal Diagnosis. 1990 ; Vol. 10, No. 8. pp. 533-538.
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