Familial occurrence of gliomas, in the absence of well-defined hereditary multisystem disorders, is reported occasionally. We describe 17 families that have been afflicted with two or more gliomas but do not raise suspicion of other inheritable syndromes. The families were identified among 369 conse
Confined placental mosaicism for chromosome 7 detected by comparative genomic hybridization
โ Scribed by B. L. Lomax; V. S. Lestou; I. J. Barrett; D. K. Kalousek
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 127 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
โฆ Synopsis
In our case, the absence of phenotypic abnormalities indicates that the supernumerary genes present in this de novo marker do not include those which are responsible for the high pathogenicity of chromosome 16 trisomy. It would be of interest to identify the loci present in this marker. This might help to define a low risk region for chromosome 16 partial trisomy and help future genetic counselling in the presence of a de novo marker of this chromosome.
๐ SIMILAR VOLUMES
At least 50 per cent of all first-trimester spontaneous abortions are cytogenetically abnormal, including trisomy, monosomy X, triploidy, tetraploidy and structural chromosome anomalies. Traditionally, the detection of aneuploidy in fetal tissues is performed by tissue sampling, cell culturing, meta
Detection of confined placental mosaicism (CPM) in term placental tissues is usually accomplished by conventional cytogenetic analysis of cultured chorionic stroma and direct preparations from trophoblast or, more recently, by fluorescence in situ hybridization (FISH) on interphase nuclei. In this s