In the present report we describe a girl with mental retardation, Dandy-Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.
|Original language||English (US)|
|Number of pages||5|
|Publication status||Published - 1991|
- Deletion 2q
- Ovarian dysgenesis
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