The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
نویسندگان
چکیده
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 کاملA girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.
Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15...
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).
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2008
ISSN: 1750-1172
DOI: 10.1186/1750-1172-3-30