Marinescu R C, Mamunes P, Kline A D, Schmidt J, Rojas K, Overhauser J
Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Am J Med Genet. 1999 Sep 17;86(3):258-63.
Cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and have a normal phenotype, 5 have inherited the insertion in an unbalanced form with 2 resulting in partial trisomy of 5p and 3 in partial monosomy of 5p. The 3 individuals show a variable phenotype with respect to mental delay and some of the findings of cri-du-chat syndrome. The extent of the 5p deletion in this family was determined using previously mapped markers. The deletion in this family was informative for further refining the phenotypic map for the cri-du-chat syndrome. This family demonstrates the importance of performing phenotype-genotype correlation studies based on the presence rather than the absence of abnormalities.
猫叫综合征是由于5号染色体短臂部分缺失所致，其特征包括猫叫样哭声、轻微面部异常、生长发育迟缓以及精神运动发育迟缓。我们鉴定出一个涉及5号染色体区域和16号染色体区域插入的家系。4名亲属为平衡携带者，具有正常表型，5人以不平衡形式遗传了该插入，其中2人导致5号染色体短臂部分三体，3人导致5号染色体短臂部分单体。这3名个体在智力发育迟缓以及猫叫综合征的一些表现方面呈现出可变的表型。利用先前定位的标记确定了该家系中5号染色体短臂缺失的范围。该家系中的缺失对于进一步完善猫叫综合征的表型图谱具有参考价值。这个家系证明了基于异常的存在而非缺失进行表型-基因型相关性研究的重要性。
