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Case Reports
. 1989;32(3):174-6.

Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype

J P Fryns  1 , A Kleczkowska, H Kenis, P Decock, H Van den Berghe
Affiliations
  • PMID: 2573314
Case Reports

Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype

J P Fryns et al. Ann Genet. 1989.

Abstract

In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.

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