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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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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cited_by cdi_FETCH-LOGICAL-c4356-eb8a463016d04e4f86862bdff9a21472242baa88a019a5790a702524357594583
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container_end_page 2730
container_issue 11
container_start_page 2727
container_title American journal of medical genetics. Part A
container_volume 167A
creator Patil, Siddaramappa J.
Salian, Smrithi
Bhat, Venkaraman
Girisha, Katta Mohan
Shrivastava, Yash
VS, Kiran
Sapare, Anilkumar
description 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.
doi_str_mv 10.1002/ajmg.a.37226
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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
title Familial 7q11.23 duplication with variable phenotype
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