Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy
نویسندگان
چکیده
منابع مشابه
Paternal 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 کاملPaternal uniparental disomy 14 and related disorders
Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological char...
متن کاملMonozygotic twins discordant for Aicardi syndrome.
Aicardi syndrome is a developmental disorder characterised by agenesis of the corpus callosum, retinal lacunae, seizures, and developmental delay. It is believed to be X linked with lethality in males. We report a set of monozygotic female twins one of whom is healthy and intellectually normal while the other has the classical Aicardi phenotype with profound retardation. Family history is negat...
متن کاملMonozygotic twins discordant for Klippel-Feil syndrome.
In a pair of Japanese monozygotic twins, one manifested Klippel-Feil syndrome, a short neck with C(1-4) vertebra fusion, whereas the other was normal. The discordance between the twins suggests that Klippel-Feil syndrome results in part from a postzygotic somatic mutation or intrauterine environmental factors.
متن کاملMonozygotic twins discordant for Goldenhar syndrome.
OBJECTIVE To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal...
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: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.3.223