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Partial Trisomy 8q Resulting from Maternal Translocation t(2;8)(q373;q23)

Published online by Cambridge University Press:  27 January 2025

P.L. Giorgi ,
E. Tarantino ,
Adriana Formica ,
P. Cipriani  and
B. Dallapiccola
P.L. Giorgi*
Affiliation:
Pediatric Clinic, University of Pisa, Italy
E. Tarantino
Affiliation:
Pediatric Clinic, University of Pisa, Italy
Adriana Formica
Affiliation:
Pediatric Clinic, University of Pisa, Italy
P. Cipriani
Affiliation:
Institute of Child Neuropsychiatry, University of Pisa, Italy
B. Dallapiccola
Affiliation:
Department of Medical Genetics, University of Rome, Italy
*
Istituto di Clinica Pediatrica dell'Università di Pisa, 56100 Pisa, Italy

Abstract

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A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 27 , January 1978 , pp. 75 - 79
Copyright
Copyright © The International Society for Twin Studies 1978

References

REFERENCES

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