alexa Abstract | Genetic Counselling in a Familial Deletion 18p Syndrome
ISSN: 2090-7214

Clinics in Mother and Child Health
Open Access

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 Open Access

Abstract

Deletion of 18p syndrome is characterized by dysmorphic features, growth deficiencies, and mental retardation with a poor verbal performance. Until now, few families have been described with limited clinical description. We report transmission of deletion 18p from a mother to his son. The proband is 8 years old and has short stature, dysmorphic features, polymorphous dyslalia and moderate mental retardation. The mother also presents dysmorphic features, mild mental retardation and has better verbal abilities than his son. Management needs to be handled by a multidisciplinary team and includes speech therapy, hormonal (if necessary) and psychological care. Genetic counselling for these patients should take into account these new data, especially in regard of a wider variability of intellectual outcomes and better verbal performance.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Cozarua GC, Aschie M, Mitroia A, Poinareanu I, Capatinaa D

Keywords

Facial dysmorphism, Mental retardation, Familial syndrome, Chromosomal deletion, Maternal Psychology

Share This Page

Additional Info

Loading
Loading Please wait..
 
 
 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords