Fetal anomalies associated with an inversion duplication 13 chromosome

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 knowle...

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Bibliographic Details
Published inObstetrics and gynecology (New York. 1953) Vol. 71; no. 6 Pt 2; p. 991
Main Authors Rijhsinghani, A G, Hruban, R H, Stetten, G
Format Journal Article
LanguageEnglish
Published United States 01.06.1988
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - 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
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Summary: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.
ISSN:0029-7844