کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814223 1569534 2008 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
چکیده انگلیسی

We report on a 26-year-old woman with microcephaly, typical facial features of 9q subtelomeric deletion syndrome, exophthalmos, contractures of elbow and knee joints, severe muscular hypotonia, no ability to walk, and no speech development.Array CGH revealed a cryptic 9q34.3 deletion and 2p25.2-p25.3 duplication transmitted by her mother, who was carrying a balanced translocation of chromosomes 2p and 9q. There are about 50 reported cases of deletions of the subtelomeric part of chromosome 9q, however, duplications of only the terminal part of chromosome 2p are rare. Neuroblastoma, diaphragmatic hernia, neural tube defects, broncho-pulmonary abnormalities, and congenital heart defects are conditions associated with partial trisomy of larger fragments of 2p. To our knowledge there is only one case described with an isolated duplication as distal as in the patient reported here. Joint contractures and exophthalmos observed in this patient are also seen in our patient. These features are not allegeable by the deletion 9q34.3 identified in the patient reported here and may be a hint that terminal duplication of 2p could be associated with exophthalmos and contractures.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 51, Issue 6, November–December 2008, Pages 615–621
نویسندگان
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