Familial 7q11.23 duplication with variable phenotype

Siddaramappa J. Patil, Smrithi Salian, Venkaraman Bhat, Katta Mohan Girisha, Yash Shrivastava, V. S. Kiran, Anilkumar Sapare

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3 Citations (Scopus)


Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype to intellectual disability, multiple congenital anomalies, and/or other variable clinical features. 7q11.23 region deletion is the cause for Williams-Beuren syndrome and duplication of same region 7q11.23 causes distinguishable clinical phenotype. Familial inheritance is known for both microdeletion and microduplication of 7q11.23 region. Here, we report a patient of paternally inherited 7q11.23 microduplication with developmental delay, macrocephaly, and structural brain malformations.

Original languageEnglish
Pages (from-to)2727-2730
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
Publication statusPublished - 01-11-2015

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Patil, S. J., Salian, S., Bhat, V., Girisha, K. M., Shrivastava, Y., Kiran, V. S., & Sapare, A. (2015). Familial 7q11.23 duplication with variable phenotype. American Journal of Medical Genetics, Part A, 167(11), 2727-2730. https://doi.org/10.1002/ajmg.a.37226