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Deletion of chromosome 3q proximal region gives rise to a variable phenotype
Author(s) -
Ogilvie Caroline Mackie,
Rooney Susan C,
Hodgson Shirley V,
Berry A Caroline
Publication year - 1998
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.1399-0004.1998.tb02681.x
Subject(s) - hypotonia , genetics , phenotype , karyotype , biology , chromosome , breakpoint , agenesis , speech delay , chin , anatomy , gene
We report two new cases with interstitial deletions of chromosome 3. Both had breakpoints established as q 12q21. Despite an apparently identical abnormal karyotype, their phenotypes were different although hypotonia, severe developmental delay, lack of speech, high arched palate and pointed chin were common features. One patient had corpus cajlosum agenesis (ACC), also present in two of the only four previously reported cases with a deletion in this region.