In general it can be said that many people with Mosaic Down Syndrome have fewer symptoms, but this isn’t always the case. Though a medically interesting variant, this type of Down syndrome is sometimes just as likely as total Trisomy 21 to have the following symptoms: Impaired cognition, ...
Clonal variation of derepressed phosphatase in chromosomally mosaic cell cultures from a child with Down's Syndrome Kinetic studies of the alkaline phosphatase activity of mass cultures of foreskin fibroblast cultures derived from six infants with Down's Syndrome (Mongolism) and nine controls failed to...
In the present case dysmorphic features and developmental delay were compatible with clinical diagnosis of Down syndrome. Cytogenetic analysis demonstrated a mosaic pattern of normal cell line and a cell line with translocation 21;21[(46,xx/46,xx, T(21;21),+21]. Presence of normal cell line ...
The presence of a significant proportion of chromosomally abnormal cells in any such mosaic will tend to lead to a clinically expressed syndrome. The proportion of each constituent clone may vary from tissue to tissue, but is relatively stable in each individual site throughout adult life. Sex ...
1985: Sister chromatid exchange frequency and lymphocyte proliferation in a downs syndrome mosaic developing an acute lymphoblastic leukemia Cancer Genetics and Cytogenetics 15(1-2): 109-112 Crossen, P.E.; Morgan, W.F. 1980: Lymphocyte proliferation in Down's syndrome measured by sister chromatid...
IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1...
However, in a region devoid of crossing over, amplification might also have allowed another type of homologous recombination, gene conversion, to emerge as a means of conserving gene function. Abundant Y–Y gene conversion in ampliconic regions Gene conversion is the non-reciprocal transfer of ...
Normal and trisomic cells of patients with Down syndrome mosaic offer the unique possibility to study the effect of an additional chromosome no. 21 against an identical genetic background. Here we show that a significant increase in the frequency of Trenimon induced sister chromatid exchanges (SCEs...
This report describes a phenotypic female with Turner syndrome, clitoromegaly, hilus cell hyperplasia, and a gonadal-to-peripheral venous step-down gradient for testosterone, androstenedione, and estradiol. Cytogenetic analysis of cells from peripheral blood and both streak gonads revealed a mosaic ...
the phage element (Fig.1); this strain is referred to as M1 Δprx. A luciferase reporter that was previously constructed to measure the transcription of the XIP-induced late competence genessb(single stranded binding protein)10, was transferred into MGAS5005 and M1 SF370 wildtype. Likewise, ...