Trisomy 5p

Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
4003955
 MALE Infant, Newborn
[Trisomy 5p: a report of 2 cases].
Alvarez-Coca J, Garcia-Alix A, Delicado A, Gonzalez M, Escriba R, Lopez Pajares I, Morena V, Peralta A.
An Esp Pediatr. 1985;22(4):288-92.
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.