Fetal anomalies associated with an inversion duplication 13 chromosome

Asha G. Rijhsinghani, Ralph H. Hruban, Gail Stetten

Research output: Contribution to journalArticlepeer-review

Abstract

We report the cytogenetics and pathology of a fetus with holoprosencephaly associated with an inversion duplication 13 chromosome. The pathology is compared with that found in cases of partial duplication (trisomy) and deficiency (monosomy) of chromosome 13 described in the literature. To our knowledge, this is the first time holoprosencephaly has been associated with this particular inversion duplication 13 chromosome. Careful pathology and complete chromosomal studies proved useful in counseling this couple.

Original languageEnglish (US)
Pages (from-to)991-994
Number of pages4
JournalObstetrics and gynecology
Volume71
Issue number6
StatePublished - Jun 1988

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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