Monosomy 18q 12.1→21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
✍ Scribed by Krasikov, Natalie ;Thompson, Kate ;Sekhon, Gurbax Singh
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 412 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## 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
## Abstract We report on a case of a 9‐month‐old female infant with a direct duplication of the 7p13‐p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional G‐banding detected a partial 7p duplication, which was further demons
We report on a young male with mental retardation, slightly upslanting palpebral ®ssures, strabismus, high-arched palate, retrognathia, and ¯at feet. Cytogenetic analysis in addition to ¯uorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chrom