𝔖 Bobbio Scriptorium
✦   LIBER   ✦

De novo trisomy 20p of paternal origin

✍ Scribed by Myriam Chaabouni; Catherine Turleau; Lotfi Karboul; Lamia Ben Jemaa; Faouzi Maazoul; Tania Attié-Bitach; Serge Romana; Habiba Chaabouni


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
171 KB
Volume
143A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


De novo trisomy 16p
✍ Juan, J.L. Carrasco; Cigudosa, J. C.; Gómez, A. Otero; Almeida, M.T. Acosta; Mir 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p؉ chromosome. Parental chromosomes were normal. The use of f

Prenatal findings in trisomy 16q of pate
✍ Dario Paladini; Antonio D'Agostino; Manuela Liguori; Adele Teodoro; Antonio Tart 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB

A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguo

PRENATAL DIAGNOSIS OF AN INFANT WITH MOS
✍ KRISTIN J. PAULYSON; DAVID M. SHERER; SUSAN L. CHRISTIAN; KERRY M. LEWIS; DAVID 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 1021 KB

We present the first case of an infant with paternally-derived mosaic trisomy 16. Amniocentesis following an elevated maternal serum alpha-fetoprotein level and early fetal growth restriction at 19 weeks detected a high level of mosaicism with 25/33 colonies demonstrating trisomy 16 and 8/33 colonie

De novo complete trisomy 5p: Clinical an
✍ Grosso, Salvatore ;Cioni, Maddalena ;Garibaldi, Gianluca ;Pucci, Lucia ;Galluzzi 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB

## Abstract Partial or complete duplication of 5p is a rare chromosomal abnormality in which genotype‐phenotype correlation studies are hampered by other commonly associated chromosomal abnormalities. We report on a new patient in whom a complete de novo trisomy 5p in all metaphases represented the