Niebuhr E
Hum Genet. 1978 Jun 9;42(2):143-56. doi: 10.1007/BF00283634.
Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromosomal heteromorphism, as rendered visible after acridine orange staining, was observed on the short arm of chromosome 14 in two cases and, after heterochromatin staining, on chromosome 19 in one family. Measurement studies, carried out in probands with simple deletions and in two control groups, showed a short-arm loss clustering between 32% and 62% of the normal short-arm length. Using at least two complementary staining methods per proband, we found that the midportion of the 5p15 segment probably must be deleted to develop the typical clinical features of the cri du chat syndrome.
对35例具有5p-核型的个体及其家族进行的染色体研究显示，存在27例明显的末端缺失、4例中间缺失和4例易位，其中包括2例家族性病例。4例单纯缺失的先证者和1例母亲为嵌合体。在2例中，经吖啶橙染色后，在14号染色体短臂上观察到异常的染色体异态性；在1个家族中，经异染色质染色后，在19号染色体上观察到异常的染色体异态性。对单纯缺失的先证者和两个对照组进行的测量研究表明，短臂缺失集中在正常短臂长度的32%至62%之间。每个先证者至少使用两种互补染色方法，我们发现5p15节段的中部可能必须缺失才能出现典型的猫叫综合征临床特征。
