Phenotypic Variability in Fraternal Twins with PEX1 Mutations: Zellweger Syndrome with Discordant Clinical Phenotype
نویسندگان
چکیده
منابع مشابه
DiGeorge syndrome with discordant phenotype in monozygotic twins
EDITOR—In a recent issue of this journal, Goodship et al reported monozygotic twins with a deletion in chromosome region 22q11 and a discordant phenotype. They concluded that phenotypic variability in this syndrome cannot be explained on the basis of genotypic diVerences alone. Here we report another case of monozygotic twins with an identical deletion in 22q11 but with discordant manifestation...
متن کاملDiGeorge syndrome with discordant phenotype in monozygotic twins.
EDITOR—In a recent issue of this journal, Goodship et al reported monozygotic twins with a deletion in chromosome region 22q11 and a discordant phenotype. They concluded that phenotypic variability in this syndrome cannot be explained on the basis of genotypic diVerences alone. Here we report another case of monozygotic twins with an identical deletion in 22q11 but with discordant manifestation...
متن کاملGenetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
OBJECTIVE To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum. METHODS Mutations were detected by different methods including SSCP analyses as a screening technique on the basis of genomic or cDNA, followed by direct sequencing of PCR fragments with an abnormal electrophoresis pattern. RESULTS...
متن کاملDiscordant monoamniotic twins with Pena–Shokeir phenotype
Pena-Shokeir phenotype is a rare disorder. However, its etiology is incompletely understood. It may be familial or may be due to anoxic-ischemic etiology. Although rare, it can affect one twin in a monoamniotic pregnancy, most likely due to early cord entanglement.
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: Hereditary Genetics
سال: 2013
ISSN: 2161-1041
DOI: 10.4172/2161-1041.s5-001