关键词: 18p deletion syndrome Genetic Translocation

Mesh : Chromosome Deletion Chromosome Disorders / diagnosis genetics Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 / genetics Cytogenetic Analysis Humans Infant Male Ring Chromosomes Translocation, Genetic

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Abstract:
Monosomy 18p syndrome is one of the prototypical examples of autosomal terminal deletions. This deletion can be the consequence of de novo deletions, malsegregation of a balanced parental translocation, cryptic subtelomeric deletions or ring chromosome 18. The present case is a rare cytogenetic variant of monosomy 18 as a consequence of whole-arm translocation between chromosomes 13 and 18 which has been reported only three times previously.
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