Prenatal diagnosis of inv(X)(q12q28) in a male fetus.
作者： R L Neu , H S Brar , B J Koos
DOI: 10.1136/JMG.25.1.52
关键词: Advanced maternal age 、 Genetics 、 Fetus 、 Pregnancy 、 Prenatal diagnosis 、 Amniocentesis 、 Obstetrics 、 Karyotype 、 X chromosome 、 Chromosomal inversion 、 Medicine 、 Genetics(clinical)
摘要: Amniocentesis and prenatal chromosome analysis were performed for advanced maternal age. The fetus was male with a paracentric inversion in the long arm of X chromosome. mother brother also carried inversion. pregnancy continued to term infant is developing normally at one year
core.ac.uk
highwire.org参考文章(5)
Philippus A. Venter, Bronwin Dawson, Joan L. Du Toit, Esme L. Smith, Nicolene Kritzinger, Annette S. Landman, Anna S. Cronje, Johann Op't Hof, A familial paracentric inversion: A short review of the current status Human Genetics. ,vol. 67, pp. 121- 125 ,(1984) , 10.1007/BF00272985
L. Tiepolo, O. Zuffardi, A. Rodewald, Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Human Genetics. ,vol. 39, pp. 277- 281 ,(1977) , 10.1007/BF00295420
K B Nielsen, F Langkjaer, Inherited partial X chromosome duplication in a mentally retarded male. Journal of Medical Genetics. ,vol. 19, pp. 222- 224 ,(1982) , 10.1136/JMG.19.3.222
E. H. Mules, J. Stamberg, Reproductive outcomes of paracentric inversion carriers: Report of a liveborn dicentric recombinant and literature review Human Genetics. ,vol. 67, pp. 126- 131 ,(1984) , 10.1007/BF00272986
Robert S. Sparkes, William J. Salter, Robert G. Blaker, Helga M. Muller, Insertional translocation into the X chromosome of a 46,XY male. Clinical Genetics. ,vol. 12, pp. 114- 118 ,(2008) , 10.1111/J.1399-0004.1977.TB00912.X