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Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
Attention-deficit/hyperactivity disorder in a population isolate : linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11
(Cell PressGenética Regeneración y CáncerGrupo de Neurociencias de AntioquiaGrupo Neuropsicología y ConductaBaltimore, Estados Unidos, 2022)
Interstitial long-arm deletion of chromosome 7 and ectrodactyly
(1989-01-01)
An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
(Sociedade Brasileira de Cardiologia, 2020-2-3)
Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome ...
Genetic susceptibility to bleomycin: A twin study
(1995-01-01)
The frequency of chromatid breaks was analysed in peripheral lymphocytes obtained from sixteen healthy monozygotic (MZ) and sixteen healthy dizygotic (DZ) pairs of twins. In addition, increases in the frequency of chromatid ...