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
Partial duplication of the short arm of chromosome 10
β Scribed by J. P. Fryns; J. Deroover; J. Haegeman; H. Berghe
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 226 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
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 absent.
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We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter-->p22.3::p22.3-->cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluo