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dc.contributor.authorFernández-Toral, Joaquín
dc.contributor.authorRodríguez, Laura 
dc.contributor.authorPlasencia, Ana
dc.contributor.authorMartínez-Frías, María Luisa
dc.contributor.authorEwers, Elisabeth
dc.contributor.authorHamid, Ahmed B
dc.contributor.authorZiegler, Monika
dc.contributor.authorLiehr, Thomas
dc.identifier.citationJ Med Case Rep. 2010 Aug 3;4:239.es_ES
dc.description.abstractINTRODUCTION: Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs. CASE PRESENTATION: Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6)(:p11.1-> q11.1:),+min(8)(:p11.1->q11.1:),+min(11)(:p11.11->q11:),+min(12)(:p11.2~12->q10:), leading overall to a small partial trisomy in 12p11.1~12.1. CONCLUSIONS: Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.es_ES
dc.description.sponsorshipSupported in parts by the DFG (LI 820/22-1) and DAAD (D07/00070).es_ES
dc.relation.isversionofPublisher's versiones_ES
dc.subject.meshGenetic Counseling es_ES
dc.subject.meshVesicoureteral Refluxes_ES
dc.subject.meshChromosomal Imbalancees_ES
dc.subject.meshHyaline Membrane Disease es_ES
dc.subject.meshChromosomal Origines_ES
dc.titleFour small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case reportes_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.identifier.journalJournal of medical case reportses_ES
dc.repisalud.centroISCIII::Instituto de Investigación de Enfermedades Rarases_ES

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