منابع مشابه
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to pro...
متن کاملInv dup (15) with mental retardation but few dysmorphic features.
We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in all cases there appears to be an additional G group sized chromosome in which...
متن کاملInv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?
OBJECTIVE To study the electroclinical phenotype in 5 patients with large supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the electroclinical spectrum in order to determine if the binomial epilepsy-EEG is stereotyped enough to corroborate this challenging diagnosis. METHODS Five patients with large inv dup (15) were submitted to EEG and/or V-EEG, with a mini...
متن کاملAn analysis of the parental age effect for inv dup (15).
Parental ages and birth order were analysed in 16 sporadic cases of inv dup (15) using the method of Smith. A significant maternal age effect was apparent (dm = 5.989, SE 1.86; df = 2.02, SE 2.496; db = 0.138, SE 0.46).
متن کاملDe Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s
The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving this region. We characterized at the molecular level five unbalanced translocations, including a ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1984
ISSN: 1468-6244
DOI: 10.1136/jmg.21.6.473