Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation
نویسندگان
چکیده
منابع مشابه
Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation.
Trisomy 10 has been detected in spontaneous abortions and prenatally. Although there are no reports of duplication of the whole long arm of chromosome 10, duplication of 10q21–qter has been found in a stillborn infant. Trisomy of more distal 10q is associated with a characteristic syndrome and has been described in many cases which almost always are familial, 4 but patients with trisomy of the ...
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A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.5.e61