Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overlapping interstitial deletions involving 6p22, 6p23 and 6p24. The main features involved are craniofacial malformations, heart and kidney defects, mental retardation/developmental delay, hypotonia and hydrocephalus. By using 36 yeast artificial chr...Expand abstract
- Publication status:
- Publisher copy:
- Copyright date:
A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.
If you are the owner of this record, you can report an update to it here: Report update to this record