Catalogue of Unbalanced Chromosome Aberrations in Man

Abstract

The purpose of the present Catalogue is to help clinicians and cytogeneticists who deal with rare chromosome aberrations to obtain a rapid and concise orientation and to provide references for further detailed literature studies. It is mainly based on the literature of the last 12 years, i.e. the era of banded chromosome examination. The emphasis of the clinical characterization of every aberration is on factors of major importance for the patient and for the people who care for him, i.e. on survival, malformations and mental development. Dysmorphic features and patterns are only briefly mentioned because a) they are often difficult to describe (and for many of them we lack objective criteria for evaluation and definition), and b) they have less impact on the patient's health. Special emphasis is placed on the correlation between aneuploidy of specific segments and clinical findings; and on the variation of clinical findings in different patients with one and the same cytogenetic aberration. The reference list contains primarily recent publications, reviews, and papers dealing with findings of special interest, e.g. studies on mental development or detailed reports on specific malformations. Unpublished material was generally not included except for cases personally observed by the author. Reports on aberrations, the cytogenetic documentation of which seemed not to be convincingly proven were in general omitted. Where such reports were included, either appropriate comments were made in the text, or the designation of the aberration was put in brackets and only the reference was given, with no text.