Monozygotic twins discordant for port wine stains support the post-zygotic mutation hypothesis.
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چکیده
منابع مشابه
Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia
BACKGROUND Monozygotic twins are valuable in assessing the genetic vs environmental contribution to diseases. In the era of complete genome sequences, they allow identification of mutational mechanisms and specific genes and pathways that offer predisposition to the development of complex diseases including schizophrenia. METHODS We sequenced the complete genomes of two pairs of monozygotic t...
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BACKGROUND/AIMS Congenital primary hypothyroidism (CH) is a rare pediatric disorder estimated to occur in about 1:2,500 live births. Approximately half of these cases entail ectopic thyroid tissue, which is believed to result from a migration defect during embryogenesis. Approximately 3% of CH cases are explained by mutation(s) in known genes, most of which are transcription factors implicated ...
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Monozygotic (MZ) twins show remarkable resemblance in many aspects of behavior, health, and disease. Until recently, MZ twins were usually called "genetically identical"; however, evidence for genetic and epigenetic differences within rare MZ twin pairs has accumulated. Here, we summarize the literature on MZ twins discordant for Mendelian inherited disorders and chromosomal abnormalities. A sy...
متن کاملAcquired Port-Wine stain: Report of two cases
Acquired port-wine stain is a rare vascular lesion that mimics a congenital port-wine stain clinically and histologically, but is acquired after birth. A survey on more than 60 reported cases in the literature reveals that most of these cases are idiopathic, but some of the cases developed after physical or mechanical trauma, hormonal changes, chronic sun exposure, and medications (OCP, i...
متن کاملتجربه درمانی همانژیوم های Port wine بوسیله لیزر آرگون
Port wine stains are benign but cosmetically devasting congenital angiomas. The argon laser is a therapeutic device newly applied to this condition. Our program was begun 6 years ago. From the beginning, the study was conceived as a clinical investigation of both the port wine stain and its argon laser therapy. A total of 218 patients with port wine stains have been studied and many aspects of ...
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عنوان ژورنال:
- Clinical genetics
دوره 83 4 شماره
صفحات -
تاریخ انتشار 2013