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Clin Genet. 1981 Feb;19(2):81-6.

A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q).

Abstract

A case of partial duplication 13q14 leads to qter is reported in a 9-year-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qtr;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.

PMID:
7471511
[Indexed for MEDLINE]
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