Case Reports
Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome
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Case Reports
Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome
Ann Genet.
1989.
Abstract
In this paper we report a 3-month-old male newborn with marked hypotonia and an interstitial deletion of the short arm of chromosome 4 but with preservation of the 4p16 band (karyotype 46,XY,del(4)(pter----p15.3::p14----cen----qter). In contrast to patients with a pure 4p16 deletion this patient presented dysmorphic stigmata which were much more discrete than those found in the typical Wolf-Hirschhorn syndrome.
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