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Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11)

✍ Scribed by Manfred Habedank; Joachim Faust

Publisher: Springer
Year: 1978
Tongue: English
Weight: 359 KB
Volume: 42
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00291304

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✦ Synopsis

Two sisters are described, each with a specific retardation syndrome due to a balanced reciprocal translocation 9p;21q in the mother. As a result of different 3:1 segregations, one of them has a trisomy 9p with all typical features; the other one reveals a typical Down's syndrome having an unusual translocation karyotype.

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