11 research outputs found
Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation
No full textClinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
No full textA de novo subtelomeric monosomy 11q (11q24.2-qter) and trimosy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
No full textA de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review
No full textFRA18C: a new aphidicolin‐inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage
No full textFragile sites are specific genomic loci that form gaps, constrictions and breaks on chromosomes exposed to replication stress conditions. In the father of a patient with Beckwith‐Wiedemann syndrome and a pure truncation of 18q22‐qter, a new aphidicolin‐sensitive fragile site on chromosome 18q22.2 (FRA18C) is described. The region in 18q22 appears highly enriched in flexibility islands previously found to be the characteristic of common fragile site regions. The breakpoint was cloned in this patient. The break disrupts the DOK6 gene and was immediately followed by a repetitive telomere motif, (TTAGGG)n. Using fluorescent in situ hybridisation, the breakpoint in the daughter was found to coincide with the fragile site in the father. The breakpoint region was highly enriched in AT‐rich sequences. It is the first report of an aphidicolin‐sensitive fragile site that coincides with an in vivo chromosome truncation in the progeny
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
No full textFive patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
Full text linkFive patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
No full textMicrodeletions involving the **SCN1A** gene may be common in **SCN1A**-mutation-negative SMEI patients
No full textTBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
No full textInternational audienceMonozygotic twin brothers with a subtelomeric 6q deletion presented with mental retardation, microcephaly, seizures, an enlarged cisterna magna, dimpling at elbows, a high arched palate and a thin upper lip. The same subtelomeric deletion was detected in the mother of the patients, presenting with a milder phenotype. We narrowed down the breakpoint to a region of approximately 100 kb and estimated the size of the terminal deletion to be 1.2 Mb. This region contains four known and seven putative genes. Comparison of the deletion with other reported patients showed TBP was the most plausible candidate gene for the mental retardation in this syndrome. We verified that the TBP gene expression was halved in our patients using real-time PCR. Cognitive and behavioural tests performed on previously described heterozygous tbp mice suggested that TBP is potentially involved in cognitive development
