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Partial trisomy 10p

✍ Scribed by K. -P. Grosse; G. Schwanitz; H. Singer; V. Wieczorek


Publisher
Springer
Year
1975
Tongue
English
Weight
203 KB
Volume
29
Category
Article
ISSN
0340-6717

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✦ Synopsis


It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.


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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