2026-06-14T03:33:12Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/70702025-06-18T06:55:14Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616
Repisalud
author
Fernández-Toral, Joaquín
author
Rodríguez, Laura
author
Plasencia, Ana
author
Martínez-Frías, María Luisa
author
Ewers, Elisabeth
author
Hamid, Ahmed B
author
Ziegler, Monika
author
Liehr, Thomas
funder
Deutsche Forschungsgemeinschaft (Alemania)
funder
German Academic Exchange Service
2019-02-01T17:07:21Z
2019-02-01T17:07:21Z
2010-08-03
J Med Case Rep. 2010 Aug 3;4:239.
10.1186/1752-1947-4-239
1752-1947
1752-1947
Journal of medical case reports
20682055
http://hdl.handle.net/20.500.12105/7070
INTRODUCTION: 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.
eng
Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report
research article
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FourSmallSupernumeraryMarker_2010.pdf
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FourSmallSupernumeraryMarker_2010.pdf.txt