A ring 14 chromosome with deleted short arm
โ Scribed by A. P. Amarose; Elizabeth Dorus; P. R. Huttenlocher; Sonia Csaszar
- Book ID
- 104700843
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 514 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
โฆ Synopsis
We report a 46,XX,r(14) karyotype in a female infant having craniofacial dysmorphology, a seizure disorder, and developmental retardation.
๐ SIMILAR VOLUMES
A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical an
Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of