In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family, DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitia
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD
β Scribed by Fortunato Lonardo; Giancarlo Parenti; Daniela Varela Luquetti; Ida Annunziata; Matteo Della Monica; Lucia Perone; Manuela De Gregori; Orsetta Zuffardi; Nicola Brunetti-Pierri; Generoso Andria; Gioacchino Scarano
- Book ID
- 116433038
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 519 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1769-7212
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A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region. By means of a novel probe, M115, fro
Although genotype-phenotype correlations in male patients with various types of nullisomy for Xp22.3 have assigned a locus for Xlinked mental retardation (MRX) to an approximately 3-Mb region between DXS31 and STS, the precise location has not been determined. In this paper, we describe a 1 4 7 / ~~