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Am J Dis Child. 1985 Jan;139(1):81-4.

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.


A young woman with features resembling de Lange syndrome had a normal banded karyotype. Similar phenotypes were present in a maternal aunt and uncle. Utilizing high-resolution banding, the propositus was found to have a chromosomal abnormality characterized by dup(4p)del(9p). Using the same banding technique, her mother and two of her siblings were identified as having balanced reciprocal translocations. Chromosome studies with high-resolution banding should be performed in these instances even in the presence of a normal banded karyotype. Determining a chromosomal basis for the phenotype may lead to a significant reproductive risk in individuals with balanced chromosomal rearrangements and may afford them with the opportunity to pursue prenatal diagnosis.

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