𝔖 Bobbio Scriptorium
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Familial cases of Down's syndrome a psu dic (21) (q22) and a rob (14q21q) in cousins

✍ Scribed by Takako Matsubara; Kazuso Iinuma; Yasuo Nakagome; Tsunehiro Yokochi


Publisher
Nature Publishing Group
Year
1981
Tongue
English
Weight
418 KB
Volume
26
Category
Article
ISSN
1435-232X

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Segregation of a familial balanced (12;1
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An interchromosomal insertion in 3 generations of a family was ascertained through two developmentally delayed first cousins. Cytogenetic analysis using G-banding and chromosome painting showed an apparently balanced direct insertion of chromosome 10 material into chromosome 12, ins(12;10)(q15;q21.2

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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 ba