𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Uniparental disomy: clinical indications for testing in growth retardation

✍ Scribed by Thomas Eggermann; Klaus Zerres; Katja Eggermann; Gudrun Moore; Hartmut A. Wollmann

Publisher
Springer
Year
2002
Tongue
English
Weight
147 KB
Volume
161
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

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 πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 464 KB πŸ‘ 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

Severe intra-uterine growth retardation
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta
✍ D. Balmer; A. Baumer; B. RΓΆthlisberger; A. Schinzel πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 88 KB

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

Confined placental mosaicism for trisomy
Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus
✍ Barbara Gibbons; Henry H. Cheng; Adrian K. H. Yoong; Stephen Brown πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 41 KB πŸ‘ 2 views

Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus

MATERNAL UNIPARENTAL DISOMY OF CHROMOSOM
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOS
✍ WENDY F. HANSEN; LYNN E. BERNARD; SYLVIE LANGLOIS; KATHLEEN W. RAO; NANCY C. CHE πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 220 KB πŸ‘ 2 views

We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features co