Interstitial deletion 13q syndromes: a report on two unrelated patients.
A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.
D000293:Adolescent; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics