title: 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.
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.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D006801:Humans; D007177:Inappropriate ADH Syndrome / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic