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      Interstitial deletion of the distal long arm of chromosome 4.

      Journal of Medical Genetics

      Skull, abnormalities, Chromosomes, Human, Pair 4, Chromosome Deletion, Facial Bones, Female, Heart Defects, Congenital, genetics, Humans, Infant, Karyotyping, Abnormalities, Multiple

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          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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          1583648
          1015928

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