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Familial 25.3 Mb inverted duplication of bands q32.1 to q35.1 on chromosome 4 with psychomotor impairments

โœ Scribed by Judith Martin; Reza Saleki; Todd Christensen; Weihua Liu; Joseph Schappert; Ying S. Zou

Book ID
115549413
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
311 KB
Volume
158A
Category
Article
ISSN
1552-4825

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๐Ÿ“œ SIMILAR VOLUMES

Familial tandem duplication of bands q31
Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect
โœ Goodman, Barbara K.; Capone, George T.; Hennessey, Jill; Thomas, George H. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 36 KB ๐Ÿ‘ 2 views

We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3) with a mild clinical phenotype. Affected family members include a 27-year-old woman and 2 of her 4 children, 1 of whom also has Klinefelter syndrome. Although 8 cases of s