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A newborn child with karyotype 47,XX,+der(12) (12pter→12q12::8q24→8qter),t(8;12) (q24;q12) pat

✍ Scribed by Johannes Nielsen; Max Vetner; Vagn Holm; Svend Aage Askjær; Edith Reske-Nielsen

Publisher
Springer
Year
1977
Tongue
English
Weight
859 KB
Volume
35
Category
Article
ISSN
0340-6717

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✦ Synopsis

A child with karyotype 47,XX,+der (12) (12pter-~12q12:'8q24 8qter,t(8;12) (q24;q12)pat is presented together with a survey of previously published cases of trisomy 12p.

Children with unbalanced autosomal derivatives born to carriers of autosomal reciprocal translocations are rare; only one was found among 54,749 consecutive liveborn children in 6 different studies, compared with children with a balanced reciprocal translocation (0.84/1000) (Nielsen and Sillesen, 1975).

We have studied a newborn child with a derivative form of paternal reciprocal autosomal translocation. The child had the karyotype 47,XX,+der(12) (12pter -~ 12q12:: 8q24-+Sqter),t(8;12) (q24;q12)pat.

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