4p partial monosomy syndrome

Common Name(s)

4p partial monosomy syndrome

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder ({5:Battaglia et al., 2008}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "4p partial monosomy syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "4p partial monosomy syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.
 

Author(s): C P Chen, S R Chern, C C Lee, W L Chen, M H Chen, K M Chang

Journal: J. Med. Genet.. 1998 Dec;35(12):1050-3.

 

We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly ...

Last Updated: 22 Mar 1999

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The terms "4p partial monosomy syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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