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Báo cáo y học: "Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report"

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report Array comparative genomic hybridisation-based identification of two imbalances of chromosome Ip in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties a case report Gregory J Fitzgibbon 1 Jill Clayton-Smith2 Siddharth Banka2 Susan J Hamilton1 Margaret M Needham1 Jonathan K Dore1 Jake T Miller1 Gareth D Pawson1 and Lorraine Gaunt1 Address Regional Cytogenetics Unit Saint Mary s Hospital Hathersage Road Manchester M13 0JH UK and 2Clinical Genetics Department Saint Mary s Hospital Hathersage Road Manchester M13 0JH UK Email Gregory J Fitzgibbon - greg.fitzgibbon@cmmc.nhs.uk Jill Clayton-Smith - jill.clayton-smith@cmmc.nhs.uk Siddharth Banka - siddharth.banka@cmmc.nhs.uk Susan J Hamilton - susan.hamilton@cmmc.nhs.uk Margaret M Needham - margaret.needham@cmmc.nhs.uk Jonathan K Dore - jonathan.dore@cmmc.nhs.uk Jake T Miller - jake.miller@cmmc.nhs.uk Gareth D Pawson - gareth.pawson@cmmc.nhs.uk Lorraine Gaunt - lorraine.gaunt@cmmc.nhs.uk Corresponding author Published 19 November 2008 Received 9 May 2008 . - rr Accepted 19 November 2008 Journal of Medical Case Reports 2008 2 355 doi l0.ll86 l 752-1947-2-355 This article is available from http www.jmedicalcasereports.com content 2 1 355 2008 Fitzgibbon et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction Monosomy 1p36 is one of the most common terminal deletion syndromes with an approximate incidence of 1 in every 5000 live births. This syndrome is associated with several pronounced clinical features including characteristic facial features cardiac abnormalities seizures and mental retardation all of which are believed to be due to .