Karyotype-Phenotype Correlation in Partial Trisomy 13

Report of a Case due to Maternal Translocation

Eugenio Bonioli, Maria Grazia Vianello

Research output: Contribution to journalArticle

7 Citations (Scopus)

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

Fingerprint

Trisomy
Karyotype
Mothers
Phenotype
Chromosomes, Human, Pair 13
Chromosomes
Trisomy 13 syndrome
Chromosome 13q trisomy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Karyotype-Phenotype Correlation in Partial Trisomy 13 : Report of a Case due to Maternal Translocation. / Bonioli, Eugenio; Vianello, Maria Grazia.

In: American Journal of Diseases of Children, Vol. 135, No. 12, 1981, p. 1115-1117.

Research output: Contribution to journalArticle

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