Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis

Clinical phenotype and molecular analysi

Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5

✍ Keppen, L. D. ;Gollin, S. M. ;Edwards, D. ;Sawyer, J. ;Wilson, W. ;Overhauser, J 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 457 KB 👁 1 views

We report on a %generation family with an interstitial deletion of the short a r m of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromos