Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).
Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q+), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D003394:Craniofacial Dysostosis / Q000235:genetics; D003878:Dermatoglyphics; D004423:Ear / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005453:Fluorescence; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008831:Microcephaly / Q000235:genetics; D008850:Microphthalmos / Q000235:genetics; D009056:Mouth Abnormalities / Q000235:genetics; D009691:Nucleic Acid Denaturation; D010375:Pedigree; D013194:Staining and Labeling; D014178:Translocation, Genetic; D014314:Trisomy