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1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
1p36 deletion syndrome; 2p15-16.1 microdeletion syndrome; 2q37 monosomy; 3p deletion syndrome; 3q29 microdeletion syndrome; 9q34.3 deletion syndrome; 10q26 deletion; 16p11.2 deletion syndrome; 17q12 microdeletion syndrome; 18p-22q11.2 distal deletion syndrome; 22q13 deletion syndrome
1p36 deletion syndrome: 1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p ...
1p36 deletion syndrome; 2p15-16.1 microdeletion syndrome; 3p deletion syndrome; 3q29 microdeletion syndrome; 8p23.1 duplication syndrome; 9q34.3 deletion syndrome;
A 29-year-old man’s debilitating night terrors were the first sign of rare autoimmune disorder that rapidly progressed, landing him in the intensive care unit in a “catatonic state.” Ben ...
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
After two years, about 5.9% of women in the first group had developed cancer, while 4.2% of those in the second group did. Interestingly, 44% of women assigned to receive surgery ultimately ...
U.S. Supreme Court Justice Neil Gorsuch will not participate in an environmental case to be argued next week involving a proposed railway in Utah, the court said on Wednesday, a move that followed ...