Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.

ABSTRACT:

Background

Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardation, microcephaly, developmental delay/intellectual disabilities, speech disturbance, hypospadias (in males) and signs of ectodermal dysplasia and cutis aplasia over the posterior occiput.

Results

Using oligoarray CGH, a 4.6 Mb deletion in 19q13.11q13.12 was detected in a 23 year old female patient that presented clinical features previously associated with 19q13.11 deletion.

Conclusions

Our work reinforces the idea that a region encompassing four zinc finger genes is likely t

SUBMITTER: Melo JB 

PROVIDER: S-EPMC4399573 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature