We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin
Neuropsychiatry of 18q- syndrome
β Scribed by Mahr, Richard N.; Moberg, Paul J.; Overhauser, Joan; Strathdee, Gordon; Kamholz, John; Loevner, Laurie A.; Campbell, Heather; Zackai, Elaine H.; Reber, Mark E.; Mozley, David P.; Brown, Lawrence; Turetsky, Bruce I.; Shapiro, Raymond M.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 73 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19960409)67:2<172::aid-ajmg7>3.0.co;2-u
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β¦ Synopsis
ship between chromosome deletion size and any measure of cognition or behavior; nor were there any correlations between any of these measures with the presence or absence of abnormalities on MRI or somatosensoryevoked potentials.
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We report on the prenatal detection and further genetic studies in a case of trisomy 18 caused by isochromosome 18p [i(18p)] and 18q [i(18q)] formation. The diagnosis was made by standard cytogenetic techniques in amniotic fluid cells and confirmed by fluorescence in situ hybridization. The formatio
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