Second case report of del(4) (q25q27) and review of the literature.

Clin Genet

Laboratory of Medical Genetics, University of Alabama, Birmingham.

Published: June 1991

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al. (1988), we conclude from our comparison of the seven previously reported cases involving deletions of bands 4(q25q27) that a specific phenotype cannot yet be described for this deletion.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1399-0004.1991.tb03058.xDOI Listing

Publication Analysis

Top Keywords

del4 q25q27
8
second case
4
case report
4
report del4
4
q25q27 review
4
review literature
4
literature report
4
report malformed
4
malformed infant
4
infant novo
4

Similar Publications

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!