منابع مشابه
Trisomy 8 syndrome.
Clinical and dermatoglyphic data on a male patient with complete trisomy 8 are reported and compared with those of other known cases of trisomy 8. The more discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems.
متن کاملGenomic characterization of chromosome 8 pericentric trisomy
We present a patient with trisomy 8p11.21q11.21 associated with language, gross motor, fine motor, and cognitive delay. Furthermore, using array-based comparative genomic hybridization, we identify the specific genes duplicated in our patient.
متن کاملTrisomy 8 Mosaicism with Atypical Phenotypic Features
Mosaic trisomy 8 is a relatively common chromosomal abnormality, which shows a great variability in clinical expression, however cases with phenotypic abnormalities tend to present with a distinct, recognizable clinical syndrome with a characteristic facial appearance, a long, slender trunk, limitation of movement in multiple joints, and mild-to-moderate mental retardation; the deep plantar fur...
متن کاملFamilial distal trisomy 8(q24.13----qter).
Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.
متن کاملTrisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?
Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myel...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37486