Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

2020 ◽  
Vol 182 (4) ◽  
pp. 813-822 ◽  
Author(s):  
Jie Hu ◽  
Zhishuo Ou ◽  
Urvashi Surti ◽  
Sally Kochmar ◽  
Lori Hoffner ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Literature Review ◽  
Clinical Features ◽  
Trisomy 12 ◽  
Diagnostic Capabilities ◽  
Mosaic Trisomy

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Features ◽  
Rare Diseases ◽  
Rare Complication ◽  
Genetic Diseases ◽  
Related Effect ◽  
Higher Sensitivity ◽  
Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

scholarly journals Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review*

2013 ◽  
Vol 88 (4) ◽  
pp. 578-584 ◽  
Author(s):  
Amanda Rodrigues Miranda ◽  
Ana Paula Fusel de Ue ◽  
Dominique Vilarinho Sabbag ◽  
Wellington de Jesus Furlani ◽  
Patricia Karla de Souza ◽  
...  
Keyword(s):  
Literature Review ◽  
Clinical Features ◽  
Oral Contraceptives ◽  
Hereditary Angioedema ◽  
Genetic Alterations ◽  
C1 Inhibitor ◽  
Type Iii ◽  
Triggering Factors ◽  
Encoding Gene ◽  
And Control

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.

scholarly journals Cascade health service use in family members following genetic testing in children: a scoping literature review

2021 ◽  
Author(s):  
Alexandra Cernat ◽  
Robin Z. Hayeems ◽  
Wendy J. Ungar
Keyword(s):  
Genetic Testing ◽  
Health Service ◽  
Literature Review ◽  
English Language ◽  
Service Use ◽  
Genetic Diagnosis ◽  
Health Service Use ◽  
Cascade Testing ◽  
Scoping Literature Review ◽  
Genetic Technologies

AbstractCascade genetic testing is the identification of individuals at risk for a hereditary condition by genetic testing in relatives of people known to possess particular genetic variants. Cascade testing has health system implications, however cascade costs and health effects are not considered in health technology assessments (HTAs) that focus on costs and health consequences in individual patients. Cascade health service use must be better understood to be incorporated in HTA of emerging genetic tests for children. The purpose of this review was to characterise published research related to patterns and costs of cascade health service use by relatives of children with any condition diagnosed through genetic testing. To this end, a scoping literature review was conducted. Citation databases were searched for English-language papers reporting uptake, costs, downstream health service use, or cost-effectiveness of cascade investigations of relatives of children who receive a genetic diagnosis. Included publications were critically appraised, and findings were synthesised. Twenty publications were included. Sixteen had a paediatric proband population; four had a combined paediatric and adult proband population. Uptake of cascade testing varied across diseases, from 37% for cystic fibrosis, 39% to 65% for hypertrophic cardiomyopathy, and 90% for rare monogenic conditions. Two studies evaluated costs. It was concluded that cascade testing in the child-to-parent direction has been reported in a variety of diseases, and that understanding the scope of cascade testing will aid in the design and conduct of HTA of emerging genetic technologies to better inform funding and policy decisions.

scholarly journals Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

2016 ◽  
Vol 55 (5) ◽  
pp. 712-717 ◽  
Author(s):  
Chih-Ping Chen ◽  
Liang-Kai Wang ◽  
Schu-Rern Chern ◽  
Yen-Ni Chen ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Mosaic Trisomy
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