[A new case of trisomy 5p].
The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Novyĭ sluchaĭ 5p.