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Case Reports
. 1981;9(2):105-11.
doi: 10.1002/ajmg.1320090204.

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring

R A Williamson, M A Donlan, C R Dolan, H C Thuline, M T Harrison, J G Hall
Case Reports

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring

R A Williamson et al. Am J Med Genet. 1981.

Abstract

The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz-Jampel syndrome.

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