Interstitial deletion 2q31→q33

作者: Philip D. Buchanan , Robin L. Rhodes , C. Edward Stevenson , John M. Opitz

DOI: 10.1002/AJMG.1320150116

关键词: PathologyBiologyGeneGenetics(clinical)

摘要: We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, interstitial deletion del(2)(q31 leads to q33) including results cytogenetic gene marker studies. The manifestations this infant are compared those four other known patients a partial del(2q).

参考文章(6)
J A Sills, K E Buckton, J A Raeburn, Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. Journal of Medical Genetics. ,vol. 13, pp. 507- 510 ,(1976) , 10.1136/JMG.13.6.507
E. Sahar, S. A. Latt, Enhancement of banding patterns in human metaphase chromosomes by energy transfer. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 75, pp. 5650- 5654 ,(1978) , 10.1073/PNAS.75.11.5650
J. German, M. E. Walker, F. H. Stiefel, F. H. Allen, MN Blood-Group Locus: Data Concerning the Possible Chromosomal Location Science. ,vol. 162, pp. 1014- 1015 ,(1968) , 10.1126/SCIENCE.162.3857.1014
J. P. Fryns, B. Van Bosstraeten, H. Malbrain, H. Van den Berghe, Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24). Human Genetics. ,vol. 39, pp. 233- 238 ,(1977) , 10.1007/BF00287018
St�phanie Warter, Charles Lausecker, Adrien Pennerath, Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2) (q34q36) Human Genetics. ,vol. 32, pp. 225- 227 ,(1976) , 10.1007/BF00291510