Article
Small terminal deletions of the long arm of chromosome 2: two new cases.
American journal of medical genetics - 1 Dec 1994
Fisher A M, Ellis K H, Browne C E, Barber J C, Barker M, Kennedy C R, Foley H, Patton M A
Abstract excerpt
We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in...
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