✦ LIBER ✦

Prenatal diagnosis of mosaic trisomy 13: a case report

✍ Scribed by S. R. Eubanks; J. A. Kuller; D. Amjadi; C. M. Powell

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 106 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199809)18:9<971::aid-pd380>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Prenatal diagnosis of trisomy 4 mosaicis

Prenatal diagnosis of trisomy 4 mosaicism

✍ Zaslav, Ann-Leslie ;Blumenthal, Donna ;Willner, Judith P. ;Pierno, Guy ;Jacob, J 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB 👁 1 views

Prenatal diagnosis of Partial Trisomy 2q

Prenatal diagnosis of Partial Trisomy 2q. Case Report

✍ Ana Matos; Ana Nogueira; Begoña Criado; Salomé Pereira; Sérgio Castedo; Nuno Mon 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 1 views

A case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above. 1997 by

Prenatal diagnosis of mosaicism for part

Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology

✍ A. Jay; M. D. Kilby; E. Roberts; K. Brackley; C. Platt; J. McHugo; E. V. Davison 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 2 views

A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+de

Trisomy 13 mosaicism at prenatal diagnos

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

✍ Martin B. Delatycki; Mark D. Pertile; R. J. McKinlay Gardner 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 1 views

We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fe

Prenatal diagnosis of mosaic complete tr

Prenatal diagnosis of mosaic complete trisomy 1q

✍ Colleen L. Schmitt; Julie S. Moldenhauer; Honor Wolfe; Kathleen Kaiser-Rogers; C 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 1 views

Prenatal diagnosis of 46,XY/46,XX mosaic

Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report

✍ Yaron, Yuval; Feldman, Baruch; Kramer, Ralph L.; Kasperski, Stefanie B.; Vo, Tri 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single ma