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Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

✍ Scribed by Bruno Dallapiccola; Giovanni Bollea; Cristina Mazzilli; Enrico Gandini

Publisher
Springer
Year
1976
Tongue
English
Weight
266 KB
Volume
33
Category
Article
ISSN
0340-6717

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✦ Synopsis

A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote for a complex translocation involving chromosomes 9, 21 and 22. The phenotypically normal sister of the proposition is also carrier of the same complex translocation.

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