Phadke, S. R. ; Sharma, A. K. ; Agarwal, S. S. (1994) Anophthalmia with cleft palate and micrognathia: a new syndrome? Journal of Medical Genetics, 31 (12). pp. 960-961. ISSN 0022-2593
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Official URL: http://jmg.bmj.com/content/31/12/960
Related URL: http://dx.doi.org/10.1136/jmg.31.12.960
Abstract
A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cytogenetics. High quality cytogenetics and FISH may show microdeletions in patients presenting with this clinical picture and normal chromosomes.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to BMJ Publishing Group. |
| ID Code: | 27 |
| Deposited On: | 16 Sep 2010 08:30 |
| Last Modified: | 12 May 2011 03:57 |
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