Premium
Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities
Author(s) -
Newton M. S.,
Cunningham C.,
Jacobs P. A.,
Price W. H.,
Fraser I. A.
Publication year - 1972
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1972.tb04271.x
Subject(s) - chromosomal translocation , autosome , robertsonian translocation , marker chromosome , chromosome , chromosome 21 , genetics , biology , karyotype , small supernumerary marker chromosome , chromosome 22 , x chromosome , gene
Details of a cytogenetic survey of 1,255 patients over 15 years of age in a hospital for the mentally subnormal are reported in this and a previous communication. In this hospital only 17 % of the male patients and 11 % of the female patients had I.Q levels above 50 %. A total of 128 patients were found to have an abnormal chromosome complement. Of these, 10 had abnormalities of the sex chromosome complement, 104 had the clinical and cytogenetic features of Down's Syndrome and 14 had other abnormalities of the autosomes. Of the 104 patients with Down's Syndrome, 95 were trisomic for chromosome 21 (1 patient also had a Robertsonian translocation between two D group choromosomes), 4 had a mosaic constitution with one cell line trisomic for chromosome 21 and 5 patients had translocations of the D/G or G/G type. The 14 patients with autosomal abnormalities not associated with Down's Syndrome included 4 with an apparently balanced translocation, 3 with deletions of chromosome material, and 7 with additional chromosome material either translocated onto another chromosome or in the form of a supernumerary chromosome. Clinical and cytogenetic details and family studies are reported.