Familial 7q11.23 duplication with variable phenotype

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 syndrom...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-11, Vol.167A (11), p.2727-2730
Main Authors: Patil, Siddaramappa J., Salian, Smrithi, Bhat, Venkaraman, Girisha, Katta Mohan, Shrivastava, Yash, VS, Kiran, Sapare, Anilkumar
Format: Article
Language:English
Subjects:
7q11.23 duplication
Chromosome Duplication - genetics
Chromosomes, Human, Pair 7 - genetics
congenital heart disease
dsygenesis and hypoplasia corpus callosum
Family
Female
Humans
hypoplasia of left cerebellum
Infant
Infant, Newborn
macrocephaly
Magnetic Resonance Imaging
Male
Phenotype
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Summary: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. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37226