𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Deletion of band 13q21 is compatible with normal phenotype

✍ Scribed by J. Couturier; N. Morichon-Delvallez; B. Dutrillaux

Publisher
Springer
Year
1985
Tongue
English
Weight
357 KB
Volume
70
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

A deletion of band 13@1, of maternal origin, was found in a male whose wife had had two miscarriages. The proband and his mother were both phenotypically normal. Repeated studies by high resolution banding techniques failed to demonstrate a translocation of the deleted band in the two subjects. The absence of pathological consequences of the deletion is explained by the fact that this band is one of the latest replicating in the human karyotype, which may indicate, by analogy with heterochromatin, that it carries no transcriptionally active genetic material.

πŸ“œ SIMILAR VOLUMES

Identical twins with deletion 16q syndro
Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region
✍ F. F. B. Elder; J. W. Ferguson; L. H. Lockhart πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 894 KB

An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21.