Monozygotic twins with trisomy 18: a report of discordant phenotype.
نویسندگان
چکیده
The predicted incidence of liveborn monozygotic trisomy 18 twins is one per million births. The first case of liveborn monozygotic trisomy 18 twins was reported in 1989 and we report a second case in which striking phenotypic discordance existed. The probability of monozygotic trisomy 18 twinning and the mechanisms for phenotypic discordance in trisomic twins is discussed.
منابع مشابه
Trisomy 13 in monozygotic twins discordant for major congenital anomalies.
The occurrence of trisomy 13 in twins is very rare. We report a pair of genotypically identical twins with trisomy 13 discordant for major anomalies. This case contributes to the already published data on the contribution of non-genetic factors to the aetiology of congenital malformations in monozygotic twins.
متن کاملWhole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identifie...
متن کاملPaternal uniparental disomy in monozygotic twins discordant for hemihypertrophy.
Hemihypertrophy, or hemihyperplasia, is a condition in which there may be asymmetrical overgrowth of the cranium, face, trunk, and/or limbs on one side of the body. There may also be asymmetrical visceromegaly on the ipsilateral or contralateral side. Hemihypertrophy may occur in isolation, hence the term “isolated hemihypertrophy (IH)”, or as part of a number of overgrowth syndromes in which o...
متن کاملDiscordant phenotypes in monozygotic twins with identical de novo WT1 mutation
Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same ph...
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
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 of medical genetics
دوره 27 10 شماره
صفحات -
تاریخ انتشار 1990