A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q)
- 1 February 1981
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 19 (2) , 81-86
- https://doi.org/10.1111/j.1399-0004.1981.tb00675.x
Abstract
A case of partial duplication 13q14 .fwdarw. qter is reported in a 9-yr-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. [The boy was also severely mentally retarded and showed multiple congenital malformations]. The chromosome duplication resulted from a familial t(10;13)(qter;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.Keywords
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