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Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)
Author(s) -
Kleczkowska A.,
Fryns J. P.,
Moerman Ph.,
Vandenberghe K.,
Berghe H. Van den
Publication year - 1987
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.1399-0004.1987.tb03323.x
Subject(s) - dup , trisomy , autopsy , gene duplication , anatomy , agenesis , congenital malformations , partial trisomy , biology , medicine , karyotype , genetics , chromosome , pathology , pregnancy , gene
In this paper we report detailed autopsy data of a malformed male newborn with Sp trisomy due to a de novo inverted 5p duplication, inv dup (5Xpl3.1→ pl5.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus caliosum, and Dandy‐Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.