The Principles of Clinical Cytogenetics - Extra Materials - Springer

Human Chromosome Nomenclature 45
Fig. 5. (continued)
Additional material of unknown origin is attached to chromosome 17 at band p13.
46,XX,add(9)(q22)
Additional material of unknown origin attached to chromosome 9 at band q22. The region 9q22 →
qter is missing and has been replaced by this material.
Deletions (del)
A deletion is an aberration in which a part of a chromosome is lost. Deletions can be either terminal,
where all chromosomal material from the breakpoint on is lost, or interstitial, in which an internal
section of one arm is missing. To introduce the reader to the detailed system of the nomenclature,
a few of the following abnormalities will be presented using both the short and detailed systems.
Terminal Deletions
46,XY,del(1)(q32) (short system)
46,XY,del(1)(pter → q32:) (detailed system)
This karyotype describes a terminal deletion involving the long arm of chromosome 1. The colon present in