A Rare Chromosome 18p Deletion Syndrome in Abha City: A Case Study
نویسندگان
چکیده
منابع مشابه
A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
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...
متن کاملA rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromoso...
متن کاملA rare chromosomal disorder - isochromosome 18p syndrome.
BACKGROUND Tetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic development in most of the cases. This condition is characterised by the presence of a supernumerary 18p isochromosome (i(18p)) in all or some cells of the affected individual. It has a prevalence of 1/180000 live births and affects both genders equally. MATERIALS AND ME...
متن کاملA Rare Case of Budd Chiari Syndrome in a Child
A 7-year- old male child presented with the complaints of tense abdominal distension and swelling over feet since 1 month. The patient had repeated episodes of similar complaints since last two years with partial or complete relief after taking various forms of allopathic therapy. On imaging, Budd-Chiari syndrome was diagnosed which was hallmarked by occluded Inferior venacava (IVC), caudate lo...
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: Journal of Clinical Case Reports
سال: 2019
ISSN: 2165-7920
DOI: 10.4172/2165-7920.10001210