[Trisomy 5p: a report of 2 cases].
Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014314:Trisomy
Trisomía 5p: aportación de dos casos.