Trisomy for the Proximal Segment of the Long Arm of Chromosome 13: A New Entity?

Javier I. Escobar, Jorge J. Yunis

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

A case of trisomy for the proximal portion of the long arm of chromosome 13 is described in a child who has a few congenital defects. This anomaly has been traced to a balanced 6/13 chromosomal translocation in the mother. A review of six cases, also trisomic for the proximal portion of the long arm, makes it possible to delineate a new clinical entity in which a small number of the clinical findings, commonly observed in the full trisomy 13, are present.

Original languageEnglish (US)
Pages (from-to)221-222
Number of pages2
JournalAmerican Journal of Diseases of Children
Volume128
Issue number2
DOIs
StatePublished - Aug 1974

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Chromosomes, Human, Pair 13
Genetic Translocation
Trisomy
Mothers
Trisomy 13 syndrome

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "A case of trisomy for the proximal portion of the long arm of chromosome 13 is described in a child who has a few congenital defects. This anomaly has been traced to a balanced 6/13 chromosomal translocation in the mother. A review of six cases, also trisomic for the proximal portion of the long arm, makes it possible to delineate a new clinical entity in which a small number of the clinical findings, commonly observed in the full trisomy 13, are present.",
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Trisomy for the Proximal Segment of the Long Arm of Chromosome 13 : A New Entity? / Escobar, Javier I.; Yunis, Jorge J.

In: American Journal of Diseases of Children, Vol. 128, No. 2, 08.1974, p. 221-222.

Research output: Contribution to journalArticle

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