8q23-q24 duplication—further delineation of a rare chromosomal abnormality
ABSTRACT Presented here is a young girl with a rare interstitial duplication of 8q23.3-q24.21. At birth, unusual facial features led to karyotype analysis with a finding of increased material in 8q. Specific determination of where the extra material came from required comparative genomic hybridization (CGH). The affected girl has dysmorphic facial features including hypertelorism, a wide nasal bridge, retrognathia, hyperopic astigmatism, hirsutism, and developmental delay. The area duplicated includes at least 47 genes including TRPS1 and EXT1. Her features will be described and compared to two similar cases.
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- "A more confident genotypeephenotype correlation may be drawn between our proband and the patient with facial dysmorphism , hyperopia and mild developmental delay carrying a 8q23.2-q24.21 duplication studied by array-CGH . Although a large size difference between duplications, both patients showed similar characteristic dysmorphic features, and mild to moderate MR (Table 1), suggesting that key genes involved in the common clinical features associated with the 8q22.2-q24.3 "
ABSTRACT: We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 → qter). This chromosomal aberration was further characterized using fluorescence in situ hybridization (FISH) analyses with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome.European journal of medical genetics 01/2012; 55(1):67-70. DOI:10.1016/j.ejmg.2011.09.001 · 1.49 Impact Factor
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ABSTRACT: A high-voltage resistive probe is developed to measure impulse voltage (1.2/50μs) distribution along thyristor units in HVDC converter valve with an optoelectronic system to transmit the measured signal. A pulse frequency modulation (PFM) mode is adopted for this transmitting system, owing to its immunity to high-intensity electromagnetic interference. Experimental results indicate that the undefined degree of the scale factor under lightning impulse for this measuring system is within ±1%, and therefore it can meet requirements specified by IEC60700-1.Applied Power Electronics Conference and Exposition, 2004. APEC '04. Nineteenth Annual IEEE; 02/2004
- American Journal of Medical Genetics Part A 09/2013; 161(9). DOI:10.1002/ajmg.a.36039 · 2.05 Impact Factor