Case Report: 7q11 Microdeletion in Swyer Syndrome Patient
نویسندگان
چکیده
منابع مشابه
16p11.2 microdeletion syndrome: a case report
BACKGROUND The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her ...
متن کاملSemi-invasive aspergillosis in an immunocompetent patient with Swyer-James-MacLeod Syndrome: a case report
INTRODUCTION Invasive and semi-invasive pulmonary aspergillosis usually occurs in immunocompromised patients. It has been described occasionally in patients with normal immunity and previous lung disease such as chronic obstructive pulmonary disease.Swyer-James-MacLeod Syndrome is a rare condition characterized by hyperlucency of one lung, lobe or part of a lobe due to decreased vascularity and...
متن کاملSwyer syndrome: a case report with literature review.
Gonadoblastomas are known to develop in dysgenetic gonads, especially so, if Y chromosome material is present. A 20-years-old girl who noticed breast development since the age of 12 years presented with primary amenorhoea, distension of lower abdomen and intermittent pain for two months. She had breakthrough bleeding with six months of estrogen replacement. Tanner breast stage was five and pubi...
متن کاملAdult diagnosis of Swyer-James-MacLeod syndrome: a case report
INTRODUCTION Swyer-James-MacLeod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. It is characterized by hypoplasia and/or agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion. CASE PRESENTATION Here we report the case of a 53-year-old Caucasian woman with Swyer-James...
متن کاملBrief Communication 16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome: A Case Report
We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegiaepilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsio...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Obstetrics and Gynaecology Cases - Reviews
سال: 2015
ISSN: 2377-9004
DOI: 10.23937/2377-9004/1410036