Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
نویسندگان
چکیده
منابع مشابه
modern surgical techniques in treatment of patients with cleft lip & cleft palate
چکیده ندارد.
15 صفحه اولChromosome 13q deletion with Cornelia de Lange syndrome phenotype.
A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case sho...
متن کاملMonozygotic twins with chromosome 22qll deletion and discordant phenotype
cannot currently be estimated, as ascertainment of such patients is usually on the basis of the presence of a heart lesion. In addition, the true prevalence of 22qll deletions is not known, although a lower limit of 1:4000 has been quoted on the basis of children presenting with congenital heart defects.2 Thus, until prospective studies are carried out that allow complete ascertainment of subje...
متن کاملMonozygotic twins with chromosome 22q11 deletion and discordant phenotype.
We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic...
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: American Journal of Medical Genetics Part A
سال: 2011
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34049