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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.
Krabbe disease (KD) (also known as globoid cell leukodystrophy [3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
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 ...
Diploid-triploid mosaicism is a human chromosome disorder.Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells).
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. [ 1 ] : 485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with ...
Children with Zellweger Spectrum disorder can have hearing loss with onset during the first months following birth. [4] Infants with the disorder can also have abnormalities including their organs. They might have a large spleen or liver, as well as heart defects. Including holes in the heart, and high blood pressure.
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Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. [2]It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. [3]