التفاصيل البيبلوغرافية
| العنوان: |
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. |
| المؤلفون: |
Bonaglia, M. C., Giorda, R., Mani, E., Aceti, G., Anderlid, B.-M., Baroncini, A., Pramparo, T., Zuffard, O. |
| المصدر: |
Journal of Medical Genetics; Oct2006, Vol. 43 Issue 10, p822-828, 7p, 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph |
| مصطلحات موضوعية: |
DEVELOPMENTAL disabilities, INTELLECTUAL disabilities, GENETICS, CHROMOSOMES, MUSCLE dysmorphia, COGNITION disorders |
| مستخلص: |
Introduction: The 22q1 3.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global develop- mental delay, and minor dysmorphic facial features. We report the molecular characterisation of the deletion breakpoint in two unrelated chromosome 22ql 3.3 deletion cases. Methods: The deletions were characterised by FISH, checked for other abnormalities by array-CGH, and confirmed by Real-Time PCR, and finally the breakpoints were cloned, sequenced, and compared. Results: Both cases show the cardinal features of the 22q1 3.3 deletion syndrome associated with a deletion involving the last 100kb of chromosome 22ql3.3. The cases show a breakpoint within the same 15 bp repeat unit, overlapping the results obtained by Wang and colleagues in 1997 and suggesting that a recurrent deletion breakpoint exists within the SHANK3 gene. The direct repeat involved in these 22q1 3 deletion cases is presumably able to form slipped (hairpin) structures, but it also has a strong potential for forming tetraplex structures. Discussion: Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. The two cases presented here, having a deletion partially overlapping the commercial subtelomeric probe, highlight the difficulties in interpreting FISH results and suggest that many similar cases may be overlooked. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
