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

Author:

Hornstein L.,Soukup S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents;Ayme;Hum. Genet.,1979

2. An inherited chromosome aberration in a girl with signs of de Lange syndrome;Broholm;Acta paediat. scand.,1968

3. Trisomie 13qter par duplication en tandem. 46, XX, dir dup 13(q21 → qter),9qh+;Grouchy;Ann. Genet.,1978

4. Partial trisomy 13 due to maternal translocation t(2;13);Giraud;Ann. Genet.,1977

5. Pericentric inversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals;Hauksdóttir;J. med. Genet.,1972

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3. Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit;American Journal of Medical Genetics Part A;2010

4. De novo partial duplication of long arm of chromosome 13: dup(13)(q12?q14);American Journal of Medical Genetics;2000-06-05

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