Trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.

Multiple cutaneous leiomyomas

The presence of multiple leiomyomas of the skin.


Total: 1

                       


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PMID (PMCID)
4018793
 FEMALE Adult
9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors?
Fryns JP, Haspeslagh M, de Muelenaere A, van Den Berghe H.
Hum Genet. 1985;70(3):284-6.
9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata.