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On the Antiquity of Trisomy 21: Moving Towards a Quantitative Diagnosis of Down Syndrome in Historic Material Culture
Down Syndrome fossils diagnosis
2014/11/6
Down syndrome was first medically described as a separate condition from other forms of cognitive impairment in 1866. Because it took so long for Down syndrome to be recognized as a clinical entity de...
Correlation of del13q, del11q and Trisomy 12 with Laboratory and Clinical Features of Chronic Lymphocytic Leukemia in Iranian Patients
Chronic lymphocytic leukemia Chromosomal aberrations Rai stages CD markers Iran
2015/9/21
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...
COMPARATIVE STUDIES OF THE CHROMOSOMAL ARRANGEMENT IN THE C-METAPHASE BETWEEN NORMAL KARYOTYPE AND TRISOMY-21
Chromosomal arrangements C-metaphase Radial & Homologue distances (+21) Satellite-association
2009/12/31
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...
Phenotypic and Cytogenetic Variety of Pure Partial Trisomy of Chromosome 16p
Chromosome pure partial trisomy interstitial duplication
2009/11/24
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 ...
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...
A Case of Partial Trisomy 13 Findings with 46,XX,der(7)t(7;13)(p22;q31)mat Karyotype
Trisomy 13 translocation partial trisomy
2009/6/30
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...
Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR
Aneuploidies holoprosencephaly QF-PCR prenatal diagnosis trisomy 13 ultrasonography
2009/6/22
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 in Trisomy 13
Linear and whorled nevoid hypermelanosis trisomy 13
2009/5/21
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...