Deletions of the short arm of chromosome 7 without craniosynostosis
β Scribed by Baccichetti Carlo; Artifoni Lina; Zanardo Vincenzo
- Book ID
- 119839303
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 125 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.