Journal of Medical Genetics · 1976 · 184 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersClinical CytogeneticsGenetic DisordersMolecular CytogeneticsStructural Chromosome AbnormalitiesChromosomal Breakage SyndromesChromosome BreakageChromosome Breakage SyndromesDifferential Diagnosis CriteriaGross Differential DiagnosisHereditary Polyposis Syndromes
mosome breakage syndromes (2 pages).Extensive coverage seems to be the primary aim of this type of publication and it is the most complete catalogue of human chromosome variation there is to date.It should be, as the author hopes, the first source to be consulted when references on a specific chromosomal abnormality are sought.The basic idea and cataloguing arrangement are good but Chromosomal Variation in Man will have to be regularly updated and extended to realize its full poten- tial and become a chromosomal 'McKusick'.