Apparent Opitz BBBG syndrome with a partial duplication of 5p
✍ Scribed by Leichtman, Lawrence G. ;Werner, Alice ;Bass, W. Thomas ;Smith, Deborah ;Brothman, Arthur R.
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 327 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
A de novo direct duplication of 9p22→p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints in this patient and p
We report on a newborn boy with manifestations of F'ryns syndrome who also had a mosaic tandem duplication of chromosome 1q24-31.2. The child had a diaphragmatic hernia, cleft palate, hypoplastic and absent digits, micrognathia, long philtrum, thin upper lip, and anteverted nose. The baby died at ag
A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged t