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Partial trisomy 6

โœ Scribed by Naomi Fitch


Book ID
119838684
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
264 KB
Volume
14
Category
Article
ISSN
0009-9163

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โœ A. Bernheim; R. Berger; G. Vaugier; J.-C. Thieffry; Y. Matet ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 522 KB

A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomali

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Cytogenetic analysis of a 6-year-old girl with moderate mental retardation revealed 46 chromosomes with a tandem translocation (21;21) resulting in a partial trisomy 21. Only the terminal band 21q22 was not in triplicate. G-, Q-, R-, and C-banding techniques and silver nitrate staining of the nucleo

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