Karyotype-Phenotype Correlation in Partial Trisomy 13: Report of a Case due to Maternal Translocation

Eugenio Bonioli, Maria Grazia Vianello

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Abstract

A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.

Original languageEnglish
Pages (from-to)1115-1117
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume135
Issue number12
DOIs
Publication statusPublished - 1981

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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