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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 ...
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
1p36 deletion syndrome. 1q21.1 deletion syndrome. Trisomy 1: 2 2q37 deletion syndrome: Trisomy 2: 3 Trisomy 3: 4 Wolf–Hirschhorn syndrome: Trisomy 4: 5 Cri du chat. 5q deletion syndrome. Trisomy 5: 6 Trisomy 6: 7 Williams syndrome: Trisomy 7: 8 Monosomy 8p Monosomy 8q Trisomy 8: 9 Alfi's syndrome. Kleefstra syndrome. Trisomy 9: 10 Monosomy ...
The American Cancer Society reports 5-year relative survival rates of over 70% for women with stage 0-III breast cancer with a 5-year relative survival rate close to 100% for women with stage 0 or stage I breast cancer. The 5-year relative survival rate drops to 22% for women with stage IV breast cancer. [3]
Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands ...
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
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