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
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
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
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
## 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