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Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

โœ Scribed by Siv Fokstuen; Claudia Ginsburg; Milo Zachmann; Albert Schinzel


Book ID
117166713
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
160 KB
Volume
134
Category
Article
ISSN
1097-6833

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MATERNAL UNIPARENTAL DISOMY OF CHROMOSOM
โœ WENDY F. HANSEN; LYNN E. BERNARD; SYLVIE LANGLOIS; KATHLEEN W. RAO; NANCY C. CHE ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 220 KB ๐Ÿ‘ 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