Interstitial deletion of chromosome 1 (q23–25). Report of a case
- 1 June 1984
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 25 (6) , 549-552
- https://doi.org/10.1111/j.1399-0004.1984.tb00500.x
Abstract
We describe a 3‐month‐old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23–25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1q deletion syndrome.Keywords
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