𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta

✍ Scribed by D. Balmer; A. Baumer; B. Röthlisberger; A. Schinzel

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
88 KB
Volume
19
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine growth retardation. Karyotyping of a placental tissue revealed non-mosaic trisomy 22, whereas lymphocyte chromosomes from the newborn were normal 46,XY. Microsatellite analysis using DNA extracted from white blood cells showed maternal uniparental heterodisomy for chromosome 22. Thus, the conceptus started as maternal trisomy due to meiotic non-disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue resulting in maternal uniparental disomy. Normal phenotypes in previous reports have suggested that maternal UPD 22 has no impact on the phenotype. Thus, growth retardation in this patient was probably caused by dysfunction of the trisomic placenta.

📜 SIMILAR VOLUMES

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSO
MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22
✍ J. M. DE PATER; G. H. SCHURING-BLOM; R. VAN DEN BOGAARD; C. J. M. VAN DER SIJS-B 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 634 KB

We report on a case of generalized mosaicism for trisomy 22. At chorionic villus sampling (CVS) in the 37th week of pregnancy, a 47,XX,+22 karyotype was detected in all cells. The indication for CVS was severe unexplained symmetrical intrauterine growth retardation (IUGR) and a ventricular septal de

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSO
MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 AND SEVERE INTRAUTERINE GROWTH RETARDATION
✍ A. L. WEBB; S. STURGISS; P. WARWICKER; S. C. ROBSON; J. A. GOODSHIP; J. WOLSTENH 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 464 KB 👁 2 views

We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a c