q21.1 resulting from an unbalanced insertion in two generations.
| Autoři: |
Glass, I A, Stormer, P, Oei, P T, Hacking, E, Cotter, P D |
| Zdroj: |
Journal of Medical Genetics; Apr1998, Vol. 35 Issue 4, p319-322, 4p, 3 Black and White Photographs, 1 Diagram |
| Abstrakt: |
In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy. [ABSTRACT FROM PUBLISHER] |
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| Autor: |
Glass, I A, Stormer, P, Oei, P T, Hacking, E, Cotter, P D |
| Zdroj: |
Journal of Medical Genetics; Apr1998, Vol. 35 Issue 4, p319-322, 4p, 3 Black and White Photographs, 1 Diagram |
| Abstrakt: |
In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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