Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies-Reference-Cited by-同舟云学术

Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies

Published:2017-05-10 Issue:6 Volume:5 Page:993-999
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Micale Mark¹²^ORCID,Embrey Bedford¹,Hubbell Katie¹,Beaudry-Rogers Kelly³,Whitten Amy²³

Affiliation:

1. Department of Pathology and Laboratory Medicine; Beaumont Health; Royal Oak Michigan

2. Oakland University William Beaumont School of Medicine; Rochester Michigan

3. Department of Obstetrics and Gynecology; Beaumont Health; Royal Oak Michigan

Publisher

Wiley

Subject

General Medicine

Reference16 articles.

1. A new case of pure partial 7q duplication;Alfonsi;Cytogenet. Genome. Res.,2012

2. Partial trisomy of 7q: case report and literature review;Scelsa;J. Child Neurol.,2008

3. Duplication of 7q36.3 encompassing the sonic hedgehog (SHH) gene is associated with congenital muscular hypertrophy;Kroeldrup;Eur. J. Med. Genet.,2012

4. Microduplications encompassing the sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome;Lohan;Clin. Genet.,2014

5. A familial 7q36.3 duplication associated with agenesis of the corpus callosum;Wong;Am. J. Med. Genet.,2015

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1. Prenatal diagnosis and genetic counselling of a maternally inherited chromosome 7q36.3 duplication with normal phenotype in a Chinese family;Taiwanese Journal of Obstetrics and Gynecology;2024-03

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3. Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature;Molecular Syndromology;2021