title: De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
abstract: BACKGROUND
  Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown.
  
  
  METHODS
  Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways.
  
  
  CONCLUSIONS
  Phenotype concordance between the monozygotic twin probands provides evidence supporting the genetic control of PS. As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development.
authors.forename: Carlotta Maria
authors.initials: CM
authors.lastname: Vaccari
authors.forename: Maria Victoria
authors.initials: MV
authors.lastname: Romanini
authors.forename: Ilaria
authors.initials: I
authors.lastname: Musante
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Divizia
authors.forename: Michele
authors.initials: M
authors.lastname: Torre
authors.forename: Carmen Gloria
authors.initials: CG
authors.lastname: Morovic
authors.forename: Margherita
authors.initials: M
authors.lastname: Lerone
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
authors.affiliation: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy. apuliti@unige.it.
authors.forename: Aldamaria
authors.initials: A
authors.lastname: Puliti
mesh_terms: D000293:Adolescent; D001940:Breast / Q000002:abnormalities; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D010641:Phenotype; D011045:Poland Syndrome / Q000175:diagnosis / Q000235:genetics*; D014430:Twins, Monozygotic