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Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings
dc.contributor.authorQuinonez, Shane C.en_US
dc.contributor.authorHedera, Peteren_US
dc.contributor.authorBarr, Masonen_US
dc.contributor.authorAckley, Todden_US
dc.contributor.authorLam, Cindyen_US
dc.contributor.authorPurkayastha, Anjalien_US
dc.contributor.authorGlover, Thomas W.en_US
dc.contributor.authorInnis, Jeffrey W.en_US
dc.date.accessioned2012-10-02T17:20:01Z
dc.date.available2013-11-04T19:53:16Zen_US
dc.date.issued2012-10en_US
dc.identifier.citationQuinonez, Shane C.; Hedera, Peter; Barr, Mason; Ackley, Todd; Lam, Cindy; Purkayastha, Anjali; Glover, Thomas W.; Innis, Jeffrey W. (2012). "Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings ." American Journal of Medical Genetics Part A 158A(10): 2591-2601. <http://hdl.handle.net/2027.42/93664>en_US
dc.identifier.issn1552-4825en_US
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/93664
dc.description.abstractWe identified a novel 6.33 Mb deletion of 1q21.3q23.3 (hg18; chr1: 153035245–159367106) in two siblings presenting with blepharophimosis, ptosis, microbrachycephaly, severe psychomotor, and intellectual disability. Additional common features include small corpus callosum, normal birth length and head circumference, postnatal growth restriction, low anterior hairline, upturned nose, bilateral preauricular pits, widely spaced teeth, gingival hypertrophy, left ventricular dilatation with decreased biventricular systolic function, delayed bone age, 5th finger clinodactyly, short 3rd digit, hyperconvex nails, obstructive and central sleep apnea, and bilateral heel contractures. Fluorescence in situ hybridization (FISH) performed in the mother of both children showed an apparently balanced, intrachromosomal insertional translocation of 1q21.3q23.3 to 1q42.12. The sibling recurrence likely arose by a maternal meiotic crossing over on the rearranged chromosome 1 between the deleted region and the insertion. We hypothesize that the decreased cardiac function and contractures may be related to LMNA haploinsufficiency. This case illustrates the importance of FISH when attempting to determine inheritance of a copy‐number variation and emphasize the value of evaluating known haploinsufficiency phenotypes for genes in deleted regions. © 2012 Wiley Periodicals, Inc.en_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherDevelopmental Delayen_US
dc.subject.otherOhdo‐Like Syndromeen_US
dc.subject.otherBMR Syndromeen_US
dc.subject.otherBlepharophimosisen_US
dc.subject.otherChromosome 1q Deletionen_US
dc.titleMaternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblingsen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Human Genetics, The University of Michigan, Ann Arbor, Michiganen_US
dc.contributor.affiliationumDivision of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michiganen_US
dc.contributor.affiliationumTeratology Unit, Division of Genetics, Departments of Pediatrics, Pathology, and Obstetrics, University of Michigan, Ann Arbor, Michiganen_US
dc.contributor.affiliationumDepartment of Pathology, The University of Michigan, Ann Arbor, Michiganen_US
dc.contributor.affiliationotherDepartment of Human Genetics, 4811 Med Sci. II, 1241 E. Catherine St., Ann Arbor, MI 48109‐5618.en_US
dc.contributor.affiliationotherDivision of Movement Disorders, Department of Neurology, Vanderbilt University, Nashville, Tennesseeen_US
dc.identifier.pmid22903861en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/93664/1/35563_ftp.pdf
dc.identifier.doi10.1002/ajmg.a.35563en_US
dc.identifier.sourceAmerican Journal of Medical Genetics Part Aen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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