[Partial monosomy 11q. A new case].
Partial monosomy 11q due to a de novo 11q231 leads to 11qter deletion was detected in a patient who died at seven days of age with most malformations characteristic of monosomy 11q, including trigonocephaly, facial dysmorphia, and congenital heart disease. In this as in most previously reported cases, the break point was at 11q231.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003398:Craniosynostoses / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn
Monosomie partielle 11q. Une nouvelle observation.