کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814615 1569536 2008 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
چکیده انگلیسی

A 106/12-year-old boy was referred to the genetics department because of mental retardation and dysmorphic findings including microcephaly, flat face, down-slanting palpebral fissures, strabismus, prominent ears, bulbous nasal tip, down-turned corners of the mouth, narrow palate, clinodactyly of the fifth fingers and generalised eczema. Cytogenetic analysis revealed a karyotype of 47,XY,+mar of paternal origin. Multicolour FISH showed the marker chromosome to be derived from chromosome 15. For further elucidation of the phenotype, array-based comparative genomic hybridisation (aCGH) was performed, which revealed dup(5)(q35.2qter) and del(1)(p36.3). Parental FISH analysis revealed that the translocation occurred de novo. Despite the presence of a clinical phenotype along with a microscopically visible chromosomal aberration, a complex cryptic cytogenetic abnormality was causative for the phenotype of the patient. Elucidation of this complex aberration required combination of the whole cytogenetic toolbox.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 51, Issue 4, July–August 2008, Pages 343–350
نویسندگان
, , , , , , , ,