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CLINICAL PROFILES OF ATYPICAL CHROMOSOME‐G ANOMALIES
Author(s) -
DEY JUDITH
Publication year - 1974
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1974.tb01097.x
Subject(s) - chromosomal translocation , karyotype , trisomy , medicine , chromosome , genetics , chromosome 21 , biology , gene
SYNOPSIS 778 patients with Down's syndrome have been assessed at this hospital in the past 81/2 years and chromosome analyses were performed on 350; 9.7% had atypical karyotypes and these will be discussed in detail; the remaining 90.3% had standard trisomy‐G karyotypes with parents with normal karyotypes or whose parents had not had chromosome analyses. Of the 34 atypical cases, 10 have G/G translocations, 7 have a D/G translocation, 11 are mosaic mongols, 5 are standard trisomy‐G with one parent with an abnormal chromosome pattern, and one a trisomy‐G with a D/D translocation.