Despite the clinical importance of trisomy 21 and other chromosomal abnormalities, very little is known about the mechanisms by which chromosome imbalance results in specific and often highly deleterious phenotypic effects. Gene dosage effects, with dire
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Maurer LH, Forcier RJ, McIntyre OR, Benirschke K (1971) Fetal group C trisomy after cytosine arabinoside and thioguanine. Ann Intern Med 75: 809–810 PubMed CAS Google Scholar Mendez LE, Mueller A, Salom E, Gonzalez-Quintero VH (2003) Paclitaxel and carboplatin chemotherapy administered dur...
Analyses are made on the birth weights of 422 patients with autosomal trisomy and partial deletion. It is found that in the autosomal trisomy groups, the mean birth weight of newborn controls is significantly heavier than that of those with Down's syndrome, trisomy D13 and trisomy E18. In ...
46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of mult... PA Casey,CE Clark,HR Cowell - 《Cli...
Therapeutic abortions were done in five cases. Four fetuses were grossly normal, but one had an enlargedspleenand another showed Trisomy C chromosome abnormality in the chorionic tissue. Because of the potential for abnormalities with cytotoxic therapy, particularly during the first trimester, a patient...
70,71,72,73,74,75 Additionally, somatic mutations in GATA1 can drive the transient myeloproliferative disease and megakaryoblastic leukemia in Down syndrome or with acquired trisomy 21.75,76 While distinct pathogenic germline and somatic alleles of GATA1 continue to be identified, in most cases ...
1995: Decreased sensitivity to nerve growth factor of dorsal root ganglion neurons cultured from mouse trisomy 16, a model of Down's syndrome Brain Research 680(1-2): 108-116 Winter, J.; Forbes, C.A.; Sternberg, J.; Lindsay, R.M. 1988: Nerve growth factor (NGF) regulates adult rat...
Meiosis and maternal aging: insights from aneuploid oocytes and trisomy births. Cold Spring Harbor Perspect Biol 2015;7:a017970. Article CAS Google Scholar Yang YF. RP-HPLC determination of paeoniflorin, baicalin, palmatine hydrochloride and berberine hydrochloride in Kuntai Capsules. Chin Traditional...
A chromosomal anomaly such as Klinefelter syndrome, 47, XXY is carried by 5% of all infertile men and microdeletions of the long arm of the Y chromosome are present in 10% of azoospermic or severely oligozoospermic men [150]. It has been shown that the post-meiotic events during spermio...