Genetic Counselling in a Familial Deletion 18p Syndrome
نویسندگان
چکیده
منابع مشابه
Genetic Counselling in a Familial Deletion 18p Syndrome
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 menta...
متن کاملA case of 18p deletion syndrome after blepharoplasty
OBJECTIVE The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease. CASE REPORT The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosoma...
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We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been report...
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Advances in molecular medicine and increasing attention of the media to clinical developments in genetics have spurred the demand for genetic counselling services for several conditions, most notably for hereditary cancers. 2 Genetic counsellors in the Canadian province of Ontario serve a population of 11.7 million, of whom approximately 85% live in urban areas and 15% live in rural areas. The ...
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ژورنال
عنوان ژورنال: Clinics in Mother and Child Health
سال: 2016
ISSN: 2090-7214
DOI: 10.4172/2090-7214.1000214