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Autor:
K. E. Wisniewski
Publikováno v:
American Journal of Medical Genetics. 37:274-281
All Down syndrome (DS) children have different degrees of developmental disabilities, developmental delay, and developmental brain abnormalities associated with CNS maturation delay and cortical dysgenesis. We have examined 780 occipitofrontal circum
Autor:
Roberto T. Zori, Harry Ostrer, Rebecca Spillar, William J. Riley, Desmond A. Schatz, Charles A. Williams
Publikováno v:
American Journal of Medical Genetics. 37:238-241
The extent to which autoimmunity contributes to thyroid dysfunction in Down Syndrome (DS) individuals has not been clarified. We studied 61 persons (34 males and 27 females) with DS (age 5 months to 48 years) for the presence of thyroid autoantibodie
Autor:
Jeérôme Lejeune
Publikováno v:
American Journal of Medical Genetics. 37:20-30
In trisomy 21, pathogenesis of mental retardation is still poorly understood although the knowledge of the genic content of chromosome 21 is steadily increasing. Short of discovering how to silence selectively one of the 3 chromosomes 21, no rational
Autor:
David K. Kalwinsky, Mary V. Relling, Raul C. Ribeiro, Nancy Bunin, Gaston K. Rivera, Ching-Hon Pui, Diane L. Fairclough, Susana C. Raimondi
Publikováno v:
American Journal of Medical Genetics. 37:267-271
Twenty-eight children with Down syndrome (DS) and acute lymphocytic leukemia (ALL) were compared to non-DS control leukemics matched by age, white blood cell (WBC) count, and treatment protocol to evaluate presenting manifestations, toxicity, and out
Autor:
Kenneth Lee Jones
Publikováno v:
American Journal of Medical Genetics. 37:89-96
This review examines the Williams syndrome (WS) from an historical perspective, beginning with the early descriptions of idiopathic infantile hypercalcemia (IIH) and ending with some speculative ideas about a possible causative function of a recently
Autor:
Frank Greenberg
Publikováno v:
American Journal of Medical Genetics. 37:85-88
Publikováno v:
American Journal of Medical Genetics. 37:69-72
Here we report on a 39-year-old woman with severe mental retardation, short stature, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the Rubinstein-Taybi syndrome. Following admission because of headache and anorexi
Publikováno v:
American Journal of Medical Genetics. 37:182-185
We report on a new case of duplication of the proximal part of the long arm of chromosome 21. The proposita presents normal mental development, no trisomy 21 manifestations; on the contrary, she had a few monosomy 21-like stigmata. She gave birth to
Autor:
Robin J. Edison, Maximilian Muenke
Publikováno v:
American Journal of Medical Genetics. :287-298
The cholesterol-lowering "statin" drugs are contraindicated in pregnancy, but few data exist on their safety in human gestation. We reviewed case reports for patterns suggesting drug-related effects on prenatal development and considered a variety of
Autor:
J. J. P. Schrander, Leopold M. G. Curfs, Prapto Sastrowijoto, Suzanne B. Cassidy, Constance T.R.M. Schrander-Stumpel, Jean-Pierre Fryns
Publikováno v:
American Journal of Medical Genetics. :333-338
Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years.