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P09.02: Uniparental disomy 14q32.2 in a fetus presenting with omphalocele

✍ Scribed by S. Wirjosoekarto; C. Willekes; A. Stegmann; M. Macville; S. Frints; Y. Arens

Book ID
112231913
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
59 KB
Volume
38
Category
Article
ISSN
0960-7692

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✍ Silvia Maria Sirchia; Chiara Andreis; Sara Pariani; Maria Grazia Grimoldi; Anna πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 362 KB

We investigated the parental origin of the extra chromosome 14 and of the two chromosomes 14 of the euploid cell line, in a case of fetal mosaicism 46,XX/47,XX+14 diagnosed at amniocentesis. Molecular analysis of five polymorphic loci of the short tandem repeat type was performed. Markers D14S43 and

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