Chromosome polymorphism in a human newborn population. II. Potentials of polymorphic chromosome variants for characterizing the idiogram of an individual.

Replicate chromosome preparations of umbilical-cord-blood leukocytes from 376 neonates born at the Albert Einstein College Hospital, Bronx, New York, were stained with C-, Q-, and G-banding methods to determine the frequencies and distributions of the variable chromosome bands. The C-band variants of primarily chromosomes 1, 9, and 16, as well as those of the remaining C, E, and F-group chromosomes, and the brightly fluorescing Q-band variants of chromosomes 3 and 4 and all of the acrocentrics, including the Y, were similarly analyzed. Polymorphism of these chromosome regions was so extensive that the idiogram of each of the 376 newborns of this study had a unique variant pattern, even when only the C- or only the Q-band patterns were compared. The distribution of polymorphic Q-bands in the population sampled was consistent with the expectations of the Hardy-Weinberg law, with the exception of chromosomes 3 and 22, where some deficiency of individuals with "homozygous" Q-band patterns was found. The baseline data presented here reinforce the view that polymorphic chromosome characteristics are very useful markers for characterizing the karyotype of an individual, for pedigree studies, for prenatal chromosome analyses, for population studies, for attempts at gene localizations, and for identifying specific cells or their chromosomes in somatic cell genetic studies.