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Journals and Conferences
Partial 18q12 trisomy, due to intrachromosomal duplication, was found in a severely mentally retarded boy. The finding of nonspecific dysmorphism in this patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype, indicating that this phenotype may be due solely to trisomy of the 18q11 band.
A 5-year-old boy with severe mental handicap, dysmorphic stigmata and a tetrasomy 21 in fibroblasts is reported. Blood lymphocytes of the patient have a normal karyotype. The origin of this tetrasomy 21 mosaicism is discussed.
Two brothers with Coffin syndrome are presented and the fifteen other cases available in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be… (More)
BACKGROUND Emergence of HIV-1 drug resistance may limit the sustained benefits of antiretroviral therapy (ART) in settings with limited laboratory monitoring and drug options. OBJECTIVES Surveillance of drug resistance and subtypes in HIV-1 patients failing ART in Cuba. STUDY DESIGN This study compiled data of ART-experienced HIV-1 patients attending a… (More)
Four different balanced X/autosome translocations: 46,X,t(X;9)(p11;q13); 46,X,t(X;12) (p11;q12); 46,X,t(X;15)(q12;p11) and 46,X,t(X;19)(q26;p12) are described in four female patients. The effect of X/autosome translocations on physical and sexual development of these women and their offspring is discussed.
In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.
Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.
In this report we describe two adult male patients with a chromosomal rearrangement involving the short arm of chromosome 18 and an acrocentric chromosome. In addition to moderate mental retardation and verbal disability they presented dysmorphic stigmata similar to those found in the Noonan syndrome.
We aimed to study epidemic trends and predictors for transmitted drug resistance (TDR) in our region, its clinical impact and its association with transmission clusters. We included 778 patients from the AIDS Reference Center in Leuven (Belgium) diagnosed from 1998 to 2012. Resistance testing was performed using population-based sequencing and TDR was… (More)