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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| Published in | Obstetrics and gynecology (New York. 1953) Vol. 71; no. 6 Pt 2; p. 991 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
01.06.1988
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| Subjects | |
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| 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. |
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| AbstractList | 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. |
| Author | Rijhsinghani, A G Stetten, G Hruban, R H |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/3287254$$D View this record in MEDLINE/PubMed |
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| PublicationTitle | Obstetrics and gynecology (New York. 1953) |
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| References | Obstet Gynecol 1989 Jan;73(1):135 |
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| Snippet | We report the cytogenetics and pathology of a fetus with holoprosencephaly associated with an inversion duplication 13 chromosome. The pathology is compared... |
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| SubjectTerms | 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 |
| Title | Fetal anomalies associated with an inversion duplication 13 chromosome |
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