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Background: There is a strong association between chromosomal abnormalities and laboratory features and clinical course of the B-cell chronic lymphocytic leukemia (B-CLL). The aim of this study was to...
Human chromosomes in amnion cells and lymphocytes with normal karyotype and in lymphocytes with pathological karyotype (2n=47, +21) were compared as to their position in the metaphase. None of the col...
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p. R-banding ...
A Case of Trisomy 8 Mosaicism     Trisomy  Mosaicism       2009/7/6
Complete trisomy 8 is usually lethal (1). Trisomy 8 mosaicism may vary from a phenotypically normal individual to a severe malformation syndrome. The phenotype includes an abnormally shaped skull, red...
Authors have shown that the trisomy of the distal part of chromosome 13 is related to different clinic findings than cases with classic trisomy 13 (1,2). They reported that different trisomic segments...
Trisomy 13, first described by Patau in 1960 (1),occurs in 1/5000 of births and is the most severe of the autosomal trisomies (2). Common features of trisomy 13 include holoprosencephaly with midfacia...
Linear and whorled nevoid hypermelanosis (LWNH) is a reticulate pigmentary disorder with a sporadic occurrence, generally representing a genetic mosaicism. In this case, we describe a two-month-old gi...

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