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Title of the item:

Prenatal diagnosis of mosaic trisomy 13: a case report.

Title :
Prenatal diagnosis of mosaic trisomy 13: a case report.
Authors :
Eubanks SR; Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill 27599, USA. />Kuller JA
Amjadi D
Powell CM
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Source :
Prenatal diagnosis [Prenat Diagn] 1998 Sep; Vol. 18 (9), pp. 971-4.
Publication Type :
Case Reports; Journal Article
Language :
English
Imprint Name(s) :
Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
MeSH Terms :
Amniocentesis*
Chromosomes, Human, Pair 13*
Mosaicism*
Trisomy*
Abortion, Induced ; Adult ; Chorionic Gonadotropin/blood ; Diagnosis, Differential ; Down Syndrome ; Estriol/blood ; Female ; Genetic Counseling ; Heart Septal Defects, Ventricular/genetics ; Humans ; Pregnancy ; Ultrasonography, Prenatal ; alpha-Fetoproteins/analysis
Substance Nomenclature :
0 (Chorionic Gonadotropin)
0 (alpha-Fetoproteins)
FB33469R8E (Estriol)
Entry Date(s) :
Date Created: 19981030 Date Completed: 19990107 Latest Revision: 20190905
Update Code :
20211106
DOI :
10.1002/(sici)1097-0223(199809)18:9<971::aid-pd380>3.0.co;2-p
PMID :
9793984
Academic Journal
While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal intelligence. There is no consensus about the typical phenotype in these cases. This makes genetic counselling after prenatal diagnosis of mosaic trisomy 13 particularly difficult. Some of the medical literature attempts to correlate the percentage of trisomic cells in peripheral blood leukocytes or skin fibroblasts with clinical outcome. There have not been case reports correlating the percentage of trisomic amniocytes and clinical outcome. We report the prenatal diagnosis of mosaic trisomy 13 by amniocentesis in which no prenatal ultrasound abnormalities were noted, and autopsy was normal with the exception of the presence of a small ventricular septal defect.

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