Mosaic tetrasomy 21 in a liveborn male infant
β Scribed by Alasdair G. W. Hunter; Brian Clifford; Marsha Speevak; S. Brock MacMurray
- Book ID
- 119839273
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 569 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnor
A 5-year-old boy with severe mental handicap, dysmorphic stigmata and a tetrasomy 21 in fibroblasts is reported. Blood lymphocytes of the patient have a normal karyotype. The origin of this tetrasomy 21 mosaicism is discussed.
We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46W47,XX, + 15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infa
We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septa1 defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25+qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations