patau syndrome
Tags: TRISOMY; CHROMOSOME abnormalities
Related Articles
- Special issue on structural genomiC alterations: ready for prime time. Polychronakos, Constantin // Journal of Medical Genetics;May2011, Vol. 48 Issue 5, p289
The article discusses various reports published within the issue including Stephen Scherer on the pericentromeric euchromatic variant on chromosome 9, Daryl Scott on the causes of isolated or syndromic diaphragmatic hernia and Johns Hopkins on parental origin and mechanism of mosaic trisomy.
- Edwards' syndrome. // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p727
An encyclopedia entry for "Edwards' syndrome," which pertains to trisomy 18, is presented.
- trisomy. // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p2378
A definition of the medical term "trisomy," which refers to having three homologous chromosomes instead of two per cell, is presented.
- Chromosomal Anomalies in First Trimester Abortions. // Fertility Weekly;12/12/2005, p4
The article discusses the findings of the researchers regarding the occurrence of chromosomal anomalies in the first trimester abortions. Autosomal trisomies constitutes 60% of chromosomal anomalies. The study revealed that at least half of first-trimester spontaneous abortions have abnormal...
- Down syndrome and the enteric nervous system. Moore, S. W. // Pediatric Surgery International;Aug2008, Vol. 24 Issue 8, p873
Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. Up to 77% of DS children have associated gastrointestinal (GI) abnormalities, which may be structural or functional in nature. Functional disturbances may, in turn, affect the outcome of corrective surgical...
- First-Trimester Screening Protocol for Trisomies 18 and 21. Ebell, Mark // American Family Physician;2/15/2004, Vol. 69 Issue 4, p939
Discusses research being done on whether a combination of markers in the first trimester of pregnancy can screen for trisomies 18 and 21. Reference to a study by R. Wapner et al published in the October 9, 2003 issue of "New England Journal of Medicine"; Tests undergone by pregnant women;...
- Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML. Nishii, K; Usui, E; Katayama, N; Lorenzo V, F; Nakase, K; Kobayashi, T; Miwa, H; Mizutani, M; Tanaka, I; Nasu, K; Dohy, H; Kyo, T; Taniwaki, M; Ueda, T; Kita, K; Shiku, H // Leukemia (08876924);Apr2003, Vol. 17 Issue 4, p731
t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), especially in FAB M2. Clinically, this type of AML often shows eosinophilia and has a high complete remission rate with conventional chemotherapy, t(8;21) AML is also frequently...
- AML1 overexpression and/or mutations should be checked in trisomy 21 patients with megakaryocytic leukemia. Huret, J L; Leonard, C // Leukemia (08876924);Jul2003, Vol. 17 Issue 7, p1421
Reports that acute myloid leukemia 1 overexpression and mutations should be checked in trisomy 21 patients with megakaryoctic leukemia.
- Bilateral Semilunar Valve Dysplasia in a Patient with Inverted Duplication 2p25�22. Kochilas, L. K.; Abuelo, D. N.; Tantravahi, U. // Pediatric Cardiology;Jan2008, Vol. 29 Issue 1, p172
Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar...
