In males, duplication of a portion of Xq chromosome is associated with multiple congenital<unk>  and developmental delay. Most females recognized as having dup(Xq) chromosomes are phenotypically apparently normal relatives of phenotypically abnormal males. The disease also is associated with the inactivation of the duplicated X chromosomes.
Microcephaly albinism digital anomalies syndrome
Alopecia contractures dwarfism intellectual disability syndrome
Aniridia renal agenesis psychomotor retardation
Trismus pseudocamptodactyly syndrome
Lenz microphthalmia syndrome
Roberts syndrome
Renal dysplasia-limb defects syndrome
Ring chromosome 14 syndrome