A rare case of chromosome 1p deletion is reported in a mentally retarded male infant with a derived chromosome: 45, XY, ‐1, ‐13, tdic(1;13) (1qter → 1p36.2:13p11.2 → 13qter). Parental chromosomes were normal. Since the patient's 6‐PGD specific activity was in the normal range, it is probable that he retained both 6‐PGD alleles. Consequently, if a dosage affect exists, then the locus for 6‐PGD must be proximal to 1p36.3.
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