Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1
نویسندگان
چکیده
Hae-Yeon Park, M.D., Myungshin Kim, M.D., Woori Jang, M.D., and Dae-Hyun Jang, M.D. Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary’s Hospital, Incheon; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul; Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea
منابع مشابه
A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
متن کاملP-204: Evaluation of DPY19L2 Gene Deletion As A Major Cause of Globozoospermia, in Iranian Globozoospermic Infertile Men
Background: Male infertility is a Multifactorial syndrome encompassing a wide variety of disorders. In more than half of infertile men, the cause of their infertility is unknown (idiopathic) and could be congenital or acquired. Globozoospermia, also called round-headed spermatozoa, is a rare disease with incidence< 0.1% among male infertile patients. The most prominent feature of globozoospermi...
متن کاملSyndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
متن کاملMelanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 37 شماره
صفحات -
تاریخ انتشار 2017