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Small terminal deletions of the long arm of chromosome 2: Two new cases

✍ Scribed by Fisher, Andrew M. ;Ellis, Katrina H. ;Browne, Caroline E. ;Barber, John C. K. ;Barker, Margaret ;Kennedy, Colin R. ;Foley, Helen ;Patton, Michael A.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 452 KB
Volume: 53
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320530412

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✦ Synopsis

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 previous reports. The abnormality may also be more common than has been assumed.

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