Publication | Open Access
Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).
28
Citations
2
References
1983
Year
Gene Deletion DataCytogeneticsGeneticsPathologyClinical FeaturesMolecular GeneticsAbnormal DevelopmentChromosome 22NeurogeneticsChromosomal RearrangementInterstitial DeletionCell BiologyDevelopmental AnomalyChromatinChromosome DynamicsDevelopmental BiologyChromatin StructureGenetic DisorderPediatricsChromosome BiologyCleft PalateMedicineChromosome 9
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.
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