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Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome. [57] In 1956, Klinefelter syndrome was found to result from an extra chromosome. [58] Plunkett and Barr found the sex chromatin body in cell nuclei of the body.
Serpentine fibula-polycystic kidney syndrome; Sertoli cell-only syndrome; Serum sickness–like reaction; Setleis syndrome; Severe acute respiratory syndrome; Shaken baby syndrome; Shapiro syndrome; Sheehan's syndrome; Shell nail syndrome; Shone's syndrome; Short anagen syndrome; Short bowel syndrome; Short man syndrome; Short QT syndrome ...
In humans (and perhaps in all placental mammals), the most common form is fetomaternal microchimerism (also known as fetal cell microchimerism or fetal chimerism) whereby cells from a fetus pass through the placenta and establish cell lineages within the mother. Fetal cells have been documented to persist and multiply in the mother for several ...
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .
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Okamoto syndrome was first described in 1997 by Nobuhiko Okamoto et al. from the Department of Medical Genetics at Osaka Women's and Children's Hospital after observing very similar symptoms and physical features in two unrelated Japanese infants. Both infants had congenital hydronephrosis due to ureteropelvic junction stenosis, low muscle tone ...