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Molecular cytogenetic diagnosis of Partial trisomy of the long arm of chromosome 9 in a child with mental and motor retardation due to maternal translocation

, : Molecular cytogenetic diagnosis of Partial trisomy of the long arm of chromosome 9 in a child with mental and motor retardation due to maternal translocation. Rossiiskii Vestnik Perinatologii i Pediatrii 44(5): 33-36

A case of partial trisomy of the long arm of chromosome 9 is described in a child with mental and motor retardation and developmental microanomalies. A cytogenetic study of his parents revealed that this abnormality in the proband was maternal. Cytogenetic and molecular cytogenetic studies identified partial trisomy of the region 9q31-9q34.2 in the child and complicated translocation with participation of 3 chromosomes in his mother. Whether there is a correlation of the clinical picture and the doubling of the aforesaid site of chromosome 9 is discussed. The paper shows that there is a need for such descriptions to define the minimum diagnostic signs in order to study whether there is a correlation between the presence of additional sites of chromosomes and the specific clinical picture that will be useful in singling out new chromosomal syndromes.


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