Krachunova M, Tsancheva M, Lozanova T
Eksp Med Morfol. 1980;19(3):144-8.
The authors examined the routine variants (RV) of the karyotype of 100 clinically healthy newborns--49 girls and 51 boys. Secondary constriction of the long arm of one of the homologues of the chromosome I was found in 2% of the newborns; of the chromosome 9--in 4% of the chromosome 16--in 3%. Secondary constriction in both homologues was observed in the chromosome I in 1%; in the chromosome 9--in 1% and in the chromosome 16--4%. Secondary constriction of the short arm of both homologues was found only in the chromosome 16 in 3%. The large acrocentric chromosomes showed extended proximal area (p5) in 34%, but diminished (pI)--in 8%. The small acrocentrics with p5 were found in 14% of the newborns, but with pI--in 7%. Enlarged satelites were observed in 1% in the both groups of acrocentrics. Difference between the homologues in respect to the short arms was observed in 32,3% of the pairs of the great acrocentrics and in 47,5% of the small acrocentrics. Distribution of the Y chromosome according to the size in 51 boys was of Gaus character q1--0%, q2--29,4%, q3--33,3%, q4--25,5% and q5--11,7%. It is possible that Y chromosome with a size of q1 could be connected with definite pathology.
作者检查了100名临床健康新生儿（49名女孩和51名男孩）的染色体核型常规变异（RV）。在2%的新生儿中发现1号染色体同源染色体之一的长臂有次缢痕；9号染色体为4%；16号染色体为3%。在1%的新生儿中观察到1号染色体的两条同源染色体均有次缢痕；9号染色体为1%；16号染色体为4%。仅在3%的新生儿中发现16号染色体的两条同源染色体短臂有次缢痕。34%的大近端着丝粒染色体显示近端区域延长（p5），但8%的显示近端区域缩小（pI）。14%的新生儿中发现有p5的小近端着丝粒染色体，但有pI的为7%。在两组近端着丝粒染色体中，均有1%观察到随体增大。在32.3%的大近端着丝粒染色体对和47.5%的小近端着丝粒染色体对中观察到同源染色体短臂存在差异。51名男孩中Y染色体按大小的分布呈高斯特征：q1为0%，q2为29.4%，q3为33.3%，q4为25.5%，q5为11.7%。大小为q1的Y染色体可能与特定病理情况有关。
