Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.
The terminal deletion with stable acentric fragment of 1q was found in a girl with multiple congenital malformations and severe mental retardation. The karyotype of both parents was normal, and the aberration appears de novo. The medium did not influence the expression of the aberration.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype