Introduction: The trisomy of chromosome 13 is the most severe of the autosomal trisomies with an incidence of 1:5000 births. Ele- ments of diagnosis are: cranial and central nervous system (CNS) malformations, ocular, skeletal, heart and genital defects. Mortality is high especially in the ...
Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of ...
The commonest cytogenetic abnormalities are trisomy 12 and deletions or translocations of the long arm of chromosome 13 usually involving band q14. The genetic consequences of trisomy 12 are unknown but structural abnormalities of chromosome... DG Oscier - 《Blood Reviews》 被引量: 152发表: 1994...
RC Lewandowski,JJ Yunis - 《American Journal of Diseases of Children》 被引量: 148发表: 1975年 Ring chromosome D (13) associated with multiple congenital malformations Cytogenetic investigations in a newborn male infant with microcephalia, hypertelorism, abnormal ears, hypospadias, absent thumbs and...
Seven detected some form of C3c, but one of them, 174, did not react with EiC3b, although it was positive with 'EC3b' (Fruitstone). 174 may detect some form of enzyme sensitive C3b antigen, but C3a was not evaluated (present on 'EC3b' Fruitstone). Twelve of the antibodies were ...
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mild...
A trisomy is a type of aneuploidy characterised by an additional chromosome. The additional chromosome theoretically accepts any kind of changes since it is not necessary for cellular proliferation. This advantage led us to apply two chromosome manipulat
Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal ... M Niazi,DV Coleman,Saldana-Garcia, P - 《Journal of Medical Genetics》 被引量: 34发表: 1978年 Prenatal Diagnosis of ...
t(14;18); trisomy 18 was associated with trisomy 3; and structural abnormalities of chromosome 17 were associated with breaks at 1p32-36 and 6q21-25... K Offit,SC Jhanwar,M Ladanyi,... - 《Genes Chromosomes Cancer》 被引量: 212发表: 2010年 Supplementation with antioxidants and folinic ...
A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23). A male infant with multiple congenital abnormalities and global retardation was found to have a translocation resulting in partial trisomy for the distal end of the long arm...