alexa Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

Like us on:

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report

Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

Giulia Melloni, Maria Francesca Bedeschi, Claudia Cesaretti, Donatella Milani, Luisa Ronzoni, Barbara Gentilin, Vera Bianchi, Federica Natacci and Faustina Lalatta*

Fondazione IRCCS Cà Grande Ospedale Maggiore Policlinico Milano, Italy

*Corresponding Author:
Faustina Lalatta
Medical Genetics Unit
Fondazione IRCCS Cà Grande Ospedale Maggiore Policlinico Milano
Via F. Sforza 35, 20122 Milano, Italy
Tel: +390255032941
E-mail: [email protected]

Received date: August 22, 2013; Accepted date:October 28, 2013; Published date: November 10, 2013

Citation: Melloni G, Bedeschi MF, Cesaretti C, Milani D, Ronzoni L, et al. (2013) Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases. J Genet Syndr Gene Ther 4:190. doi:10.4172/2157-7412.1000190

Copyright: © 2013 Melloni G, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Clinical genetics is the discipline which deals with hereditary diseases and implies a strong diagnostic approach without which all information conveyed by the counselling process has insecure foundation and the estimation of recurrence risk within the family may be misinterpreted.

The ideal time for having a genetic counselling is before pregnancy. In this case the subsequent genetic evaluation and counselling may lead to the definition of a reproductive risk and thus to an early, even prenatal diagnosis in the offspring. However in some cases genetic conditions are under-recognized in the adult age and people are not referred to genetic services. This happens because of a variety of reasons both related to the health professionals (non-habit to the pre-conceptional genetic counselling, lack of attention/information on genetic themes, diagnostic difficulties related to the variability of gene expression, incomplete penetrance and late onset conditions) and to the patient’s psychological status, for example denial mechanisms.

Six cases are presented in which a correct diagnosis in one parent was reached after the identification of a rare disease in the child with severe psychological and social consequences.

Obviously the lack of the correct diagnosis in the parent implied that he/she was not only uninformed about the presence of the increased reproductive risk, but also unaware of the clinical variability of the condition. Anger and frustration was present in all affected parents asking why their family doctors never suspected the condition which, afterwards, seemed quite obvious. Legal actions were started in two out of six cases.

Establishing the correct diagnosis, or at least the suspicion of a genetic disease, is therefore a priority that may be not considered an exclusive responsibility of the geneticist, but ideally involves other medical figures, for example primary care physician, pediatricians or other medical specialists who see a patient with a condition.


Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

+1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals


[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7