PubMed · 9004139
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W Reardon, R C Trembath. 1996. Pendred syndrome.. https://doi.org/10.1136/jmg.33.12.1037
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We report on a new duplication case of 7q11.23, reciprocal of the Williams-Beuren (WB) deletion. The patient, a 13-year-old girl, was ascertained within an array-CGH screening of patients with epilepsy and neuronal migration defects. Similarly to the first reported patient, she showed serious difficulties in expressive language in the absence of severe mental retardation and marked dysmorphic features. Magnetic resonance imaging (MRI) of the brain revealed an abnormal development of the cerebral cortex in the left temporal lobe, which showed a simplified gyral pattern, and increased cortical thickness. This finding, which might explain poor language development, suggests that the WB critical region might harbour a dosage-sensitive gene controlling the molecular machinery of neuronal migration, with regional specificity and lateralization. It will be important to confirm our findings in newly diagnosed patients with dup(7)(q11.23). We expect to detect many more patients with the same duplication using widespread clinical implementation of high-resolution genome analysis.
We present the first case of a vulvar leiomyoma studied by cytogenetics. The tumor formed a 3.0-cm periurethral nodule in a middle-aged woman and was positive for the muscle markers desmin and caldesmon, and for estrogen and progesterone receptors. Its karyotype was 46,XX,t(7;8)(p13;q11.2). This translocation has not been described in previously reported leiomyomas, regardless of their site of origin. The transcription factor PLAG1 gene at 8q12 was not altered by the translocation.
Genome scans for osteoarthritis (OA) have yielded inconsistent results. The absence of replication of linkage might be due to lack of power of individual studies. A meta-analysis of the published data was performed to assess evidence for linkage of OA across genome scan studies. Three OA whole-genome scans including 893 families with 3,000 affected individuals were used for genome scan meta-analysis (GSMA). A total of 5 bins lie above 95% confidence level (P = 0.05) and 1 bin is above 99% confidence level (P = 0.01) in OA GSMA; bins 7.6 (7q34-7q36.3, Psumrnk = 0.0035), 11.3 (11p12-11q13.4), 6.3 (6p21.1-6q15), 2.8 (2q31.1-2q34) and 15.3 (15q21.3-15q26.1). The highest summed rank was observed at bin 7.6. In conclusion, the OA GSMA has shown chromosome 7q34-7q36.3 with the highest summed rank and four additional loci with significant summed ranks across studies.