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Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

✍ Scribed by Dorothy K. Grange; Jaime Garcia-Heras; Ramzi A. Kilani; Stephen Lamp


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
190 KB
Volume
137A
Category
Article
ISSN
1552-4825

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Trisomy 20q caused by der(4) t(4;20) (q3
✍ Plotner, Pamela L. ;Smith, Janice L. ;Northrup, Hope 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

## Abstract An infant with multiple congenital anomalies and severe developmental delay was found to have a derivative chromosome 4 by routine karyotypic analysis. Using telomeric FISH analysis, the source of the additional chromatin was determined to be from 20q. The infant, thus, is trisomic for