16p subtelomeric duplication: a clinically recognizable syndrome
نویسندگان
چکیده
منابع مشابه
16p Subtelomeric Duplication with Vascular Anomalies: an Albanian Case Report and Literature Review
A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4...
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Abstract A 2.5 year old girl is presented with both hands constriction bands leading to distal amputations and the rare deformity of shoulder duplication in the right side accompanying constriction skin marking over the affected shoulder. The cephalomedial scapula articulated with the clavicle and the caudolateral scapula articulated with humeral head. The most important physical finding which...
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The 6p terminal deletions are rare and present variability of clinical features, which increases the importance of reporting additional cases in order to better characterize genotype-phenotype correlations. We report a 12-year-old girl with a de novo deletion in 6p25.1-pter characterized by high-resolution karyotyping and FISH. Further analysis using oligonucleotide array-CGH revealed a 5.06 Mb...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2009
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2009.14