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.
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U2 - 10.1002/ajmg.a.37226
DO - 10.1002/ajmg.a.37226
M3 - Article
C2 - 26109321
AN - SCOPUS:84946423577
SN - 1552-4825
VL - 167
SP - 2727
EP - 2730
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -