Title

Fetal anomalies associated with an inversion duplication 13 chromosome

Document Type

Article

Peer Reviewed

1

Publication Date

6-1-1988

NLM Title Abbreviation

Obstet Gynecol

Journal/Book/Conference Title

Obstetrics and gynecology

PubMed ID

3287254

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.

Keywords

Abnormalities, Multiple/diagnosis/genetics, Adult, Brain/abnormalities, Chromosome Aberrations, Chromosome Banding, Chromosome Disorders, Chromosome Inversion, Chromosomes, Human, Pair 13, Female, Humans, Karyotyping, Microcephaly/genetics, Pregnancy, Prenatal Diagnosis, Ultrasonography

Published Article/Book Citation

Obstetrics and gynecology, 71:6 Pt 2 (1988) pp.991-994.

This document is currently not available here.

Share

COinS
 

URL

http://ir.uiowa.edu/obgyn_pubs/888