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Epileptic Apnea in a Trisomy 18 Infant

โœ Scribed by Tomohiro Kumada; Ryuichi Nishii; Tatsuya Higashi; Nozomi Oda; Tatsuya Fujii


Book ID
116825639
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
582 KB
Volume
42
Category
Article
ISSN
0887-8994

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This paper describes a case of partial trisomy of almost the entire long arm of chromosome 18 in a newborn with classic trisomy-18 phenotype, resulting from a de novo unbalanced 181/21p translocation: karyotype: 46,XX,-21,t(18;21)(18qter leads to 18q11 ::21p12 leads to 21qter). A review of the other