A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

2.50
Hdl Handle:
http://hdl.handle.net/11287/594012
Title:
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
Authors:
Iype, T.; Alakbarzade, Vafa; Iype, M.; Singh, R.; Sreekantan-Nair, Ajith; Chioza, Barry A.; Mohapatra, T. M.; Baple, E. L.; Patton, M. A.; Warner, T. T.; Proukakis, C.; Kulkarni, A.; Crosby, Andrew H.
Abstract:
BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance. METHODS AND RESULTS: We investigated a large Indian five-generation pedigree with ten affected family members in which chromosomal microarray and fluorescence in situ hybridization analyses disclosed a complex rearrangement involving chromosomal subregions 4p16.1 and 3p26.3 resulting in a 4p16.1 deletion and 3p26.3 microduplication in three individuals, and a 4p16.1 duplication and 3p26.3 microdeletion in seven individuals. A typical clinical presentation of WHS was observed in all three cases with 4p16.1 deletion and 3p26.3 microduplication. Individuals with a 4p16.1 duplication and 3p26.3 microdeletion demonstrated a range of clinical features including typical 3p microdeletion or 4p partial trisomy syndrome to more severe neurodevelopmental delay with distinct dysmorphic features. CONCLUSION: We present the largest pedigree with complex t(4p;3p) chromosomal rearrangements and diverse clinical outcomes including Wolf Hirschorn-, 3p deletion-, and 4p duplication syndrome amongst affected individuals.
Citation:
BMC Med Genet. 2015 Nov 10;16(1):104.
Publisher:
BMC Med Genet
Journal:
BMC medical genetics
Issue Date:
10-Nov-2015
URI:
http://hdl.handle.net/11287/594012
DOI:
10.1186/s12881-015-0251-5
PubMed ID:
26554554
Additional Links:
http://www.biomedcentral.com/1471-2350/16/104
Note:
This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
Type:
Journal Article
Language:
eng
ISSN:
1471-2350
Appears in Collections:
2015 RD&E publications; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorIype, T.en
dc.contributor.authorAlakbarzade, Vafaen
dc.contributor.authorIype, M.en
dc.contributor.authorSingh, R.en
dc.contributor.authorSreekantan-Nair, Ajithen
dc.contributor.authorChioza, Barry A.en
dc.contributor.authorMohapatra, T. M.en
dc.contributor.authorBaple, E. L.en
dc.contributor.authorPatton, M. A.en
dc.contributor.authorWarner, T. T.en
dc.contributor.authorProukakis, C.en
dc.contributor.authorKulkarni, A.en
dc.contributor.authorCrosby, Andrew H.en
dc.date.accessioned2016-01-19T12:38:34Zen
dc.date.available2016-01-19T12:38:34Zen
dc.date.issued2015-11-10en
dc.identifier.citationBMC Med Genet. 2015 Nov 10;16(1):104.en
dc.identifier.issn1471-2350en
dc.identifier.pmid26554554en
dc.identifier.doi10.1186/s12881-015-0251-5en
dc.identifier.urihttp://hdl.handle.net/11287/594012en
dc.description.abstractBACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance. METHODS AND RESULTS: We investigated a large Indian five-generation pedigree with ten affected family members in which chromosomal microarray and fluorescence in situ hybridization analyses disclosed a complex rearrangement involving chromosomal subregions 4p16.1 and 3p26.3 resulting in a 4p16.1 deletion and 3p26.3 microduplication in three individuals, and a 4p16.1 duplication and 3p26.3 microdeletion in seven individuals. A typical clinical presentation of WHS was observed in all three cases with 4p16.1 deletion and 3p26.3 microduplication. Individuals with a 4p16.1 duplication and 3p26.3 microdeletion demonstrated a range of clinical features including typical 3p microdeletion or 4p partial trisomy syndrome to more severe neurodevelopmental delay with distinct dysmorphic features. CONCLUSION: We present the largest pedigree with complex t(4p;3p) chromosomal rearrangements and diverse clinical outcomes including Wolf Hirschorn-, 3p deletion-, and 4p duplication syndrome amongst affected individuals.en
dc.language.isoengen
dc.publisherBMC Med Geneten
dc.relation.urlhttp://www.biomedcentral.com/1471-2350/16/104en
dc.titleA large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsen
dc.typeJournal Articleen
dc.identifier.journalBMC medical geneticsen
dc.description.noteThis article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.en

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.