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Case Reports
. 1992 Apr;29(4):259-61.
doi: 10.1136/jmg.29.4.259.

Interstitial deletion of the distal long arm of chromosome 4

P Sarda  1 , G Lefort, J P Fryns, C Humeau, D Rieu
Affiliations
Case Reports

Interstitial deletion of the distal long arm of chromosome 4

P Sarda et al. J Med Genet. 1992 Apr.

Abstract

We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal deletions of 4q31----qter probably mainly results from loss of the segment q31----q33-34.

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