4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations

Familial tandem duplication of bands q31

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect

✍ Goodman, Barbara K.; Capone, George T.; Hennessey, Jill; Thomas, George H. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 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