𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions

✍ Scribed by Nowaczyk, M. J. M.; Teshima, I. E.; Siegel-Bartelt, J.; Clarke, J. T. R.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
600 KB
Volume
69
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosome 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving the 4q21/ 4q22 region reported previously detected a characteristic phenotype in 8 patients. This phenotype was present in our patients. We conclude that the deletion in the 4q21/4q22 region results in a specific clinical syndrome associated with central nervous system overgrowth that may be a result of anomalous imprinting in the 4q21/4q22 region.

πŸ“œ SIMILAR VOLUMES

Interstitial deletion of the long arm of
Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor
✍ Suwa, Kiyotaka; Momoi, Mariko Y.; Yamagata, Takanori; Mori, Yuuko πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micrope