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The 11q- syndrome

โœ Scribed by John Frank; Vincent M. Riccardi


Book ID
104753987
Publisher
Springer
Year
1977
Tongue
English
Weight
299 KB
Volume
35
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


An eighth case of terminal deletion of the long arm of chromosome eleven (11q--) is reported to emphasize both the distinctive facies, but otherwise non-specific nature of this disorder, and the female preponderance of affected patients. Growth and mental retardation, congenital heart disease and telecanthus are the other most constant features. The authors' experience with 3 unrelated cases in less than 2 years suggests that this syndrome is underdiagnosed.


๐Ÿ“œ SIMILAR VOLUMES


Partial 11q trisomy syndrome
โœ Helena Pihko; Eeva Therman; Irene A. Uchida ๐Ÿ“‚ Article ๐Ÿ“… 1981 ๐Ÿ› Springer ๐ŸŒ English โš– 658 KB
The 11q- syndrome: Another case report
โœ Marie T. Mulcahy; Joy Jenkyn ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 184 KB

The clinical findings and developmental progress of a female infant with karyotype 46,XX,del(11)(q23) are described. Comparison is made with five other reported cases, and the suggestion of a new syndrome del 11q--is supported.