Ring chromosome 14. A distinct clinical entity.
نویسندگان
چکیده
In this report two non consanguineous children are presented with strikingly similar phenotypes confirming the existence of a characteristic phenotype due to a ring chromosome 14 formation.
منابع مشابه
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases h...
متن کاملRing Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
متن کاملA terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.
A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome as...
متن کاملCongenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
متن کاملIs “Basal-like” Carcinoma of the Breast a Distinct Clinicopathologic Entity? A Critical Review with Cautionary Notes
This review deals with studies that have used cDNA microarrays and immunohistochemistry to identify a subtype of breast carcinoma recently known as “basal-like” carcinoma. The key breast carcinoma studies are critically discussed to highlight methodological problems in cohort selection, definitions, interpretation of results, an...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal de genetique humaine
دوره 31 Suppl 5 شماره
صفحات -
تاریخ انتشار 1981