Familial mental retardation in a family with an inherited chromosome rearrangement.

نویسندگان

  • A E Chudley
  • F Bauder
  • M Ray
  • P J McAlpine
  • S D Pena
  • J L Hamerton
چکیده

family members have inherited the der(l 1) and thus have a duplication of the same segment [(18)(ql1q21)]. Genetic marker studies on this family, show no significant segregation of any of the markers studied with either the der(I 1) or der(l8). Eight family members had the PepA8 PepA' genotype and four ofthese were carrying the der(18), indicating that the PepA locus which had been previously assigned to chromosome 18, does not lie in the segment ql 1-q21.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 11 4  شماره 

صفحات  -

تاریخ انتشار 1974