Tags

Type your tag names separated by a space and hit enter

Fetal anomalies associated with an inversion duplication 13 chromosome.
Obstet Gynecol. 1988 Jun; 71(6 Pt 2):991-4.OG

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.

Authors+Show Affiliations

Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3287254

Citation

Rijhsinghani, A G., et al. "Fetal Anomalies Associated With an Inversion Duplication 13 Chromosome." Obstetrics and Gynecology, vol. 71, no. 6 Pt 2, 1988, pp. 991-4.
Rijhsinghani AG, Hruban RH, Stetten G. Fetal anomalies associated with an inversion duplication 13 chromosome. Obstet Gynecol. 1988;71(6 Pt 2):991-4.
Rijhsinghani, A. G., Hruban, R. H., & Stetten, G. (1988). Fetal anomalies associated with an inversion duplication 13 chromosome. Obstetrics and Gynecology, 71(6 Pt 2), 991-4.
Rijhsinghani AG, Hruban RH, Stetten G. Fetal Anomalies Associated With an Inversion Duplication 13 Chromosome. Obstet Gynecol. 1988;71(6 Pt 2):991-4. PubMed PMID: 3287254.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fetal anomalies associated with an inversion duplication 13 chromosome. AU - Rijhsinghani,A G, AU - Hruban,R H, AU - Stetten,G, PY - 1988/6/1/pubmed PY - 1988/6/1/medline PY - 1988/6/1/entrez SP - 991 EP - 4 JF - Obstetrics and gynecology JO - Obstet Gynecol VL - 71 IS - 6 Pt 2 N2 - 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. SN - 0029-7844 UR - https://www.unboundmedicine.com/medline/citation/3287254/Fetal_anomalies_associated_with_an_inversion_duplication_13_chromosome_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=3287254.ui DB - PRIME DP - Unbound Medicine ER -