[PDF][PDF] Interstitial deletion of 2q24. 2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine …
E Yokoyama, CE Villarroel, V Del Castillo… - Am J Med Genet …, 2013 - researchgate.net
Recently, 2q24. 2 deletion syndrome has emerged as a cause of intellectual disability.
Takatsuki et al.[2010] provided the first report with a deletion in 2q24. 2q24. 3, confirmed
using comparative genomic hybridization microarray (aCGH) analysis, who had a low-birth
weight, hypotonia, myoclonic seizures, dysmorphic features, and pulmonary emphysema.
Subsequently, two other cases were reported showing severe hypotonia, joint laxity, and
facial dysmorphism; one of them had a de novo interstitial deletion of 5-Mb at 2q24. 2q24. 3 …
Takatsuki et al.[2010] provided the first report with a deletion in 2q24. 2q24. 3, confirmed
using comparative genomic hybridization microarray (aCGH) analysis, who had a low-birth
weight, hypotonia, myoclonic seizures, dysmorphic features, and pulmonary emphysema.
Subsequently, two other cases were reported showing severe hypotonia, joint laxity, and
facial dysmorphism; one of them had a de novo interstitial deletion of 5-Mb at 2q24. 2q24. 3 …
[引用][C] Interstitial deletion of 2q24. 2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine …
E Yokoyama Rebollar - 2019 - repositorio.pediatria.gob.mx
… Cromosomas Humanos Par 2 - genética … Cromosome 2 Chromosome Deletion …
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