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Pure partial trisomy of the short arm of chromosome 5

✍ Scribed by Marie Odile Rethoré; Marie Christine Blois; Marie Peeters; P. Popowski; C. Pangalos; J. Lejeune


Publisher
Springer
Year
1989
Tongue
English
Weight
552 KB
Volume
82
Category
Article
ISSN
0340-6717

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A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germ

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A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were ab