Familial 7q11.23 duplication with variable phenotype

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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
Volume167
Issue number11
DOIs
Publication statusPublished - 01-11-2015

Fingerprint

Megalencephaly
Phenotype
Intellectual Disability
Brain
Paternal Inheritance
Williams-Beuren Region Duplication Syndrome

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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
Patil, Siddaramappa J. ; Salian, Smrithi ; Bhat, Venkaraman ; Girisha, Katta Mohan ; Shrivastava, Yash ; Kiran, V. S. ; Sapare, Anilkumar. / Familial 7q11.23 duplication with variable phenotype. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 11. pp. 2727-2730.
@article{088ba094214c4a238a131022f3e94b1d,
title = "Familial 7q11.23 duplication with variable phenotype",
abstract = "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.",
author = "Patil, {Siddaramappa J.} and Smrithi Salian and Venkaraman Bhat and Girisha, {Katta Mohan} and Yash Shrivastava and Kiran, {V. S.} and Anilkumar Sapare",
year = "2015",
month = "11",
day = "1",
doi = "10.1002/ajmg.a.37226",
language = "English",
volume = "167",
pages = "2727--2730",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "11",

}

Patil, SJ, Salian, S, Bhat, V, Girisha, KM, Shrivastava, Y, Kiran, VS & Sapare, A 2015, 'Familial 7q11.23 duplication with variable phenotype', American Journal of Medical Genetics, Part A, vol. 167, no. 11, pp. 2727-2730. https://doi.org/10.1002/ajmg.a.37226

Familial 7q11.23 duplication with variable phenotype. / Patil, Siddaramappa J.; Salian, Smrithi; Bhat, Venkaraman; Girisha, Katta Mohan; Shrivastava, Yash; Kiran, V. S.; Sapare, Anilkumar.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 11, 01.11.2015, p. 2727-2730.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Familial 7q11.23 duplication with variable phenotype

AU - Patil, Siddaramappa J.

AU - Salian, Smrithi

AU - Bhat, Venkaraman

AU - Girisha, Katta Mohan

AU - Shrivastava, Yash

AU - Kiran, V. S.

AU - Sapare, Anilkumar

PY - 2015/11/1

Y1 - 2015/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84946423577&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84946423577&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37226

DO - 10.1002/ajmg.a.37226

M3 - Article

VL - 167

SP - 2727

EP - 2730

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 11

ER -