Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). F...

Full description

Saved in:
Bibliographic Details
Published inGene Vol. 511; no. 2; pp. 451 - 454
Main Authors Mundhofir, Farmaditya E.P., Smeets, Dominique, Nillesen, Willy, Winarni, Tri Indah, Yntema, Helger G., de Leeuw, Nicole, Hamel, Ben C.J., Faradz, Sultana M.H., van Bon, Bregje W.M.
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 15.12.2012
Subjects
9pter deletion
9qter duplication
Adolescent
Adult
chromosome 9
Chromosome Inversion
chromosomes
Chromosomes, Human, Pair 9
Female
Humans
Intellectual disability
Inversion
monosomics
Monosomy
patients
Pericentric inversion
phenotype
progeny
Recombinant chromosome
Siblings
Single-nucleotide polymorphism
sisters
trisomics
Trisomy
OMIM
9qter duplication
9pter deletion
RUNMC
CEBIOR
CNAG
DECIPHER
DGV
Intellectual disability
MLPA
SNP
Mb
Kb
Pericentric inversion
FISH
ECARUCA
UCSC
Recombinant chromosome
GTG
ID
DGHE
Online AccessGet full text

Cover

Abstract Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460kb loss of 9p24.3 and a terminal 8.9Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4Mb region of chromosome 9q34.11q34.13. ► Pericentric inversion of chr 9 leading to unbalanced live-born offspring is rare. ► We molecularly characterised two new cases (sisters) with unbalanced rec chr 9. ► We compared our patients with previous patients with similar aberrations. ► We propose that the core phenotype is the result of duplication of a 3.4Mb region.
AbstractList Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460kb loss of 9p24.3 and a terminal 8.9Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4Mb region of chromosome 9q34.11q34.13. ► Pericentric inversion of chr 9 leading to unbalanced live-born offspring is rare. ► We molecularly characterised two new cases (sisters) with unbalanced rec chr 9. ► We compared our patients with previous patients with similar aberrations. ► We propose that the core phenotype is the result of duplication of a 3.4Mb region.
Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460kb loss of 9p24.3 and a terminal 8.9Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4Mb region of chromosome 9q34.11q34.13.
Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460 kb loss of 9p24.3 and a terminal 8.9 Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13.
Author van Bon, Bregje W.M.
Hamel, Ben C.J.
Winarni, Tri Indah
de Leeuw, Nicole
Faradz, Sultana M.H.
Yntema, Helger G.
Mundhofir, Farmaditya E.P.
Nillesen, Willy
Smeets, Dominique
Author_xml – sequence: 1
  givenname: Farmaditya E.P.
  surname: Mundhofir
  fullname: Mundhofir, Farmaditya E.P.
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
– sequence: 2
  givenname: Dominique
  surname: Smeets
  fullname: Smeets, Dominique
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
– sequence: 3
  givenname: Willy
  surname: Nillesen
  fullname: Nillesen, Willy
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
– sequence: 4
  givenname: Tri Indah
  surname: Winarni
  fullname: Winarni, Tri Indah
  organization: Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University GSG 2nd floor Jl. Dr. Sutomo 14, Semarang, Indonesia
– sequence: 5
  givenname: Helger G.
  surname: Yntema
  fullname: Yntema, Helger G.
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
– sequence: 6
  givenname: Nicole
  surname: de Leeuw
  fullname: de Leeuw, Nicole
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
– sequence: 7
  givenname: Ben C.J.
  surname: Hamel
  fullname: Hamel, Ben C.J.
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
– sequence: 8
  givenname: Sultana M.H.
  surname: Faradz
  fullname: Faradz, Sultana M.H.
  organization: Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University GSG 2nd floor Jl. Dr. Sutomo 14, Semarang, Indonesia
– sequence: 9
  givenname: Bregje W.M.
  surname: van Bon
  fullname: van Bon, Bregje W.M.
  email: B.vanBon@antrg.umcn.nl
  organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
BackLink https://www.ncbi.nlm.nih.gov/pubmed/22995347$$D View this record in MEDLINE/PubMed
BookMark eNqNkUFv1DAQhS1URLeFP8ABfOSS4LETJ5a4oApapCIO0COyHGdSebWxd-1sUf89s0rhiPBlNKNvnsbvXbCzmCIy9hpEDQL0-219jxFrKUDWwtQC-mdsA31nKiFUf8Y2QnV9BQDmnF2UshX02la-YOdSGtOqptuwn19TTCXNj9zsF8zcxZEvOayTg2pqgMNpHiJffiVeQqGu8PGIfEnc8dlRH92O7zEHj5F2PcEPBIUUX7Lnk9sVfPVUL9nd508_rm6q22_XX64-3la-AbVUjVYTajMOPR0_qF4DdpKKH30nu0FNRhq6XcoJhQRsCFCTGGTbKen95NQle7fq7nM6HLEsdg7F427nIqZjsQAd-aJB6_9ApSZ53UtC5Yr6nErJONl9DrPLjxaEPSVgt_aUgD0lYIWxlAAtvXnSPw4zjn9X_lhOwNsVmFyy7p68tnffSaGlHzbKyIaIDyuBZNlDwGyLDxg9jiGjX-yYwr8u-A3kdKCY
CitedBy_id crossref_primary_10_1007_s10048_019_00581_6
crossref_primary_10_1038_s10038_020_0769_z
crossref_primary_10_1186_s13039_016_0267_3
Cites_doi 10.1016/j.cancergencyto.2004.12.002
10.1002/ajmg.a.34160
10.1111/j.1399-0004.2007.00874.x
10.1093/nar/gnf056
10.1111/j.1399-0004.1980.tb00121.x
10.1002/ajmg.a.31847
10.1158/0008-5472.CAN-05-0465
10.1089/gtmb.2011.0157
10.1007/BF01876811
10.1002/dvdy.22092
10.1002/ajmg.1320450519
10.1002/(SICI)1096-8628(19970414)69:4<360::AID-AJMG5>3.0.CO;2-P
10.1016/j.ygeno.2007.10.011
10.1016/j.nbd.2007.04.015
10.1111/j.1399-0004.1983.tb02243.x
10.1002/ajmg.a.33196
ContentType Journal Article
Copyright 2012 Elsevier B.V.
Copyright © 2012 Elsevier B.V. All rights reserved.
Copyright_xml – notice: 2012 Elsevier B.V.
– notice: Copyright © 2012 Elsevier B.V. All rights reserved.
DBID FBQ
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7X8
8FD
FR3
P64
RC3
DOI 10.1016/j.gene.2012.09.018
DatabaseName AGRIS
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
MEDLINE - Academic
Technology Research Database
Engineering Research Database
Biotechnology and BioEngineering Abstracts
Genetics Abstracts
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
Genetics Abstracts
Engineering Research Database
Technology Research Database
Biotechnology and BioEngineering Abstracts
DatabaseTitleList
Genetics Abstracts
MEDLINE - Academic

MEDLINE
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
– sequence: 3
  dbid: FBQ
  name: AGRIS
  url: http://www.fao.org/agris/Centre.asp?Menu_1ID=DB&Menu_2ID=DB1&Language=EN&Content=http://www.fao.org/agris/search?Language=EN
  sourceTypes: Publisher
DeliveryMethod fulltext_linktorsrc
Discipline Engineering
Anatomy & Physiology
Biology
EISSN 1879-0038
EndPage 454
ExternalDocumentID 10_1016_j_gene_2012_09_018
22995347
US201500043924
S0378111912010992
Genre Research Support, Non-U.S. Gov't
Journal Article
Case Reports
GroupedDBID ---
--K
--M
-~X
.~1
0R~
1B1
1RT
1~.
1~5
4.4
457
4G.
5GY
5VS
7-5
71M
8P~
9JM
AABNK
AACTN
AAEDT
AAEDW
AAIAV
AAIKJ
AAKOC
AALRI
AAOAW
AAQFI
AAXUO
ABFNM
ABFRF
ABGSF
ABJNI
ABLJU
ABMAC
ABUDA
ABXDB
ABYKQ
ACDAQ
ACGFO
ACGFS
ACIUM
ACNCT
ACRLP
ADBBV
ADEZE
ADMUD
ADUVX
AEBSH
AEFWE
AEHWI
AEKER
AENEX
AFKWA
AFTJW
AFXIZ
AGHFR
AGUBO
AGYEJ
AHHHB
AIEXJ
AIKHN
AITUG
AJBFU
AJOXV
ALMA_UNASSIGNED_HOLDINGS
AMFUW
AMRAJ
AXJTR
BKOJK
BLXMC
CS3
DOVZS
DU5
EBS
EFJIC
EFLBG
EJD
EO8
EO9
EP2
EP3
F5P
FDB
FIRID
FNPLU
FYGXN
G-Q
GBLVA
HZ~
IHE
J1W
KOM
LX3
M41
MO0
N9A
O-L
O9-
OAUVE
OZT
P-8
P-9
P2P
PC.
Q38
RIG
ROL
RPZ
SCC
SDF
SDG
SDP
SES
SPCBC
SSU
SSZ
T5K
WH7
ZA5
~G-
.55
.GJ
0SF
29H
53G
AAHBH
AAQXK
ABEFU
ADIYS
ADVLN
AGRDE
AI.
AKRWK
ASPBG
AVWKF
AZFZN
FBQ
FEDTE
FGOYB
G-2
G8K
HLW
HVGLF
MVM
R2-
SBG
SEW
VH1
WUQ
X7M
XOL
XPP
Y6R
ZGI
~KM
AAXKI
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
AFJKZ
CITATION
7X8
8FD
FR3
P64
RC3
ID FETCH-LOGICAL-c413t-463fe69db8879b3861e72386cdc727b3f92900022fe021e48613f0b25732ccfa3
IEDL.DBID AIKHN
ISSN 0378-1119
IngestDate Fri Oct 25 03:17:20 EDT 2024
Fri Oct 25 01:43:37 EDT 2024
Thu Sep 26 17:22:22 EDT 2024
Sat Sep 28 08:03:35 EDT 2024
Wed Aug 07 04:41:20 EDT 2024
Fri Feb 23 02:28:08 EST 2024
IsPeerReviewed true
IsScholarly true
Issue 2
Keywords OMIM
9qter duplication
9pter deletion
RUNMC
CEBIOR
CNAG
DECIPHER
DGV
Intellectual disability
MLPA
SNP
Mb
Kb
Pericentric inversion
FISH
ECARUCA
UCSC
Recombinant chromosome
GTG
ID
DGHE
Language English
License Copyright © 2012 Elsevier B.V. All rights reserved.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c413t-463fe69db8879b3861e72386cdc727b3f92900022fe021e48613f0b25732ccfa3
Notes http://dx.doi.org/10.1016/j.gene.2012.09.018
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ObjectType-Article-2
ObjectType-Feature-1
PMID 22995347
PQID 1126613682
PQPubID 23479
PageCount 4
ParticipantIDs proquest_miscellaneous_1171876166
proquest_miscellaneous_1126613682
crossref_primary_10_1016_j_gene_2012_09_018
pubmed_primary_22995347
fao_agris_US201500043924
elsevier_sciencedirect_doi_10_1016_j_gene_2012_09_018
PublicationCentury 2000
PublicationDate 2012-12-15
PublicationDateYYYYMMDD 2012-12-15
PublicationDate_xml – month: 12
  year: 2012
  text: 2012-12-15
  day: 15
PublicationDecade 2010
PublicationPlace Netherlands
PublicationPlace_xml – name: Netherlands
PublicationTitle Gene
PublicationTitleAlternate Gene
PublicationYear 2012
Publisher Elsevier B.V
Publisher_xml – name: Elsevier B.V
References Mattei, Mattei, Ardissone, Taramasco, Giraud (bb0035) 1980; 17
Youngs, McCord, Hellings, Spinner, Schneider, Butler (bb0080) 2010; 152A
Betz, Behairy, Rabionet, Tirtorahardjo, Moore, Cotter (bb0010) 2005; 160
Griggs, Ladd, Saul, DuPont, Srivastava (bb0025) 2008; 91
Mizuno (bb0045) 2011; 155A
Nannya (bb0055) 2005; 65
Gawlik-Kuklinska (bb0015) 2007; 143A
Sonoda, Ohba, Ohdo, Sameshima (bb0075) 1991; 36
Grundmann (bb0030) 2007; 27
Mundhofir (bb0050) 2012; 16
Mattei, Mattei, Balestrazzi, Giraud (bb0040) 1983; 24
Shapira, Orr-Urtreger, Gagos, Shaffer (bb0070) 1997; 69
Gersen, Keinanen (bb0020) 2005
Ruiter (bb0060) 2007; 72
Balic, Adams, Mina (bb0005) 2009; 238
Schouten, McElgunn, Waaijer, Zwijnenburg, Diepvens, Pals (bb0065) 2002; 30
Spinner, Lucas, Poggensee, Jacquette, Schneider (bb0180) 1993; 45
Spinner (10.1016/j.gene.2012.09.018_bb0180) 1993; 45
Mundhofir (10.1016/j.gene.2012.09.018_bb0050) 2012; 16
Gersen (10.1016/j.gene.2012.09.018_bb0020) 2005
Betz (10.1016/j.gene.2012.09.018_bb0010) 2005; 160
Ruiter (10.1016/j.gene.2012.09.018_bb0060) 2007; 72
Mattei (10.1016/j.gene.2012.09.018_bb0040) 1983; 24
Shapira (10.1016/j.gene.2012.09.018_bb0070) 1997; 69
Grundmann (10.1016/j.gene.2012.09.018_bb0030) 2007; 27
Gawlik-Kuklinska (10.1016/j.gene.2012.09.018_bb0015) 2007; 143A
Balic (10.1016/j.gene.2012.09.018_bb0005) 2009; 238
Griggs (10.1016/j.gene.2012.09.018_bb0025) 2008; 91
Schouten (10.1016/j.gene.2012.09.018_bb0065) 2002; 30
Youngs (10.1016/j.gene.2012.09.018_bb0080) 2010; 152A
Mattei (10.1016/j.gene.2012.09.018_bb0035) 1980; 17
Sonoda (10.1016/j.gene.2012.09.018_bb0075) 1991; 36
Mizuno (10.1016/j.gene.2012.09.018_bb0045) 2011; 155A
Nannya (10.1016/j.gene.2012.09.018_bb0055) 2005; 65
References_xml – year: 2005
  ident: bb0020
  article-title: The Principles of Clinical Cytogenetics
  contributor:
    fullname: Keinanen
– volume: 160
  start-page: 76
  year: 2005
  end-page: 78
  ident: bb0010
  article-title: Acquired inv(9): what is its significance?
  publication-title: Cancer Genet. Cytogenet.
  contributor:
    fullname: Cotter
– volume: 91
  start-page: 195
  year: 2008
  end-page: 202
  ident: bb0025
  article-title: Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
  publication-title: Genomics
  contributor:
    fullname: Srivastava
– volume: 69
  start-page: 360
  year: 1997
  end-page: 364
  ident: bb0070
  article-title: Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring
  publication-title: Am. J. Med. Genet.
  contributor:
    fullname: Shaffer
– volume: 45
  start-page: 609
  year: 1993
  end-page: 613
  ident: bb0180
  article-title: Duplication 9q34–>qter identified by chromosome painting
  publication-title: Am. J. Med. Genet.
  contributor:
    fullname: Schneider
– volume: 24
  start-page: 220
  year: 1983
  end-page: 222
  ident: bb0040
  article-title: Familial pericentric inversion of chromosome 9, INV(9)(p22q32) with recurrent duplication–deletion
  publication-title: Clin. Genet.
  contributor:
    fullname: Giraud
– volume: 17
  start-page: 129
  year: 1980
  end-page: 136
  ident: bb0035
  article-title: Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication–deletion of chromosome 9 and gene dosage effect for adenylate kinase-1
  publication-title: Clin. Genet.
  contributor:
    fullname: Giraud
– volume: 143A
  start-page: 2019
  year: 2007
  end-page: 2023
  ident: bb0015
  article-title: A girl with duplication 9q34 syndrome
  publication-title: Am. J. Med. Genet. A
  contributor:
    fullname: Gawlik-Kuklinska
– volume: 16
  start-page: 412
  year: 2012
  end-page: 417
  ident: bb0050
  article-title: A cytogenetic study in a large population of intellectually disabled Indonesians
  publication-title: Genet. Test. Mol. Biomarkers
  contributor:
    fullname: Mundhofir
– volume: 72
  start-page: 362
  year: 2007
  end-page: 368
  ident: bb0060
  article-title: Pure subtelomeric microduplications as a cause of mental retardation
  publication-title: Clin. Genet.
  contributor:
    fullname: Ruiter
– volume: 238
  start-page: 2599
  year: 2009
  end-page: 2613
  ident: bb0005
  article-title: Prx1 and Prx2 cooperatively regulate the morphogenesis of the medial region of the mandibular process
  publication-title: Dev. Dyn.
  contributor:
    fullname: Mina
– volume: 36
  start-page: 111
  year: 1991
  end-page: 116
  ident: bb0075
  article-title: 9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)
  publication-title: Jinrui Idengaku Zasshi
  contributor:
    fullname: Sameshima
– volume: 152A
  start-page: 230
  year: 2010
  end-page: 233
  ident: bb0080
  article-title: An 18-year follow-up report on an infant with a duplication of 9q34
  publication-title: Am. J. Med. Genet. A
  contributor:
    fullname: Butler
– volume: 27
  start-page: 190
  year: 2007
  end-page: 206
  ident: bb0030
  article-title: Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
  publication-title: Neurobiol. Dis.
  contributor:
    fullname: Grundmann
– volume: 65
  start-page: 6071
  year: 2005
  end-page: 6079
  ident: bb0055
  article-title: A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
  publication-title: Cancer Res.
  contributor:
    fullname: Nannya
– volume: 30
  start-page: e57
  year: 2002
  ident: bb0065
  article-title: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
  publication-title: Nucleic Acids Res.
  contributor:
    fullname: Pals
– volume: 155A
  start-page: 2274
  year: 2011
  end-page: 2280
  ident: bb0045
  article-title: Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)
  publication-title: Am. J. Med. Genet. A
  contributor:
    fullname: Mizuno
– volume: 160
  start-page: 76
  year: 2005
  ident: 10.1016/j.gene.2012.09.018_bb0010
  article-title: Acquired inv(9): what is its significance?
  publication-title: Cancer Genet. Cytogenet.
  doi: 10.1016/j.cancergencyto.2004.12.002
  contributor:
    fullname: Betz
– volume: 155A
  start-page: 2274
  year: 2011
  ident: 10.1016/j.gene.2012.09.018_bb0045
  article-title: Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.34160
  contributor:
    fullname: Mizuno
– volume: 72
  start-page: 362
  year: 2007
  ident: 10.1016/j.gene.2012.09.018_bb0060
  article-title: Pure subtelomeric microduplications as a cause of mental retardation
  publication-title: Clin. Genet.
  doi: 10.1111/j.1399-0004.2007.00874.x
  contributor:
    fullname: Ruiter
– volume: 30
  start-page: e57
  year: 2002
  ident: 10.1016/j.gene.2012.09.018_bb0065
  article-title: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gnf056
  contributor:
    fullname: Schouten
– volume: 17
  start-page: 129
  year: 1980
  ident: 10.1016/j.gene.2012.09.018_bb0035
  article-title: Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication–deletion of chromosome 9 and gene dosage effect for adenylate kinase-1
  publication-title: Clin. Genet.
  doi: 10.1111/j.1399-0004.1980.tb00121.x
  contributor:
    fullname: Mattei
– volume: 143A
  start-page: 2019
  year: 2007
  ident: 10.1016/j.gene.2012.09.018_bb0015
  article-title: A girl with duplication 9q34 syndrome
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.31847
  contributor:
    fullname: Gawlik-Kuklinska
– volume: 65
  start-page: 6071
  year: 2005
  ident: 10.1016/j.gene.2012.09.018_bb0055
  article-title: A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
  publication-title: Cancer Res.
  doi: 10.1158/0008-5472.CAN-05-0465
  contributor:
    fullname: Nannya
– year: 2005
  ident: 10.1016/j.gene.2012.09.018_bb0020
  contributor:
    fullname: Gersen
– volume: 16
  start-page: 412
  year: 2012
  ident: 10.1016/j.gene.2012.09.018_bb0050
  article-title: A cytogenetic study in a large population of intellectually disabled Indonesians
  publication-title: Genet. Test. Mol. Biomarkers
  doi: 10.1089/gtmb.2011.0157
  contributor:
    fullname: Mundhofir
– volume: 36
  start-page: 111
  year: 1991
  ident: 10.1016/j.gene.2012.09.018_bb0075
  article-title: 9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)
  publication-title: Jinrui Idengaku Zasshi
  doi: 10.1007/BF01876811
  contributor:
    fullname: Sonoda
– volume: 238
  start-page: 2599
  year: 2009
  ident: 10.1016/j.gene.2012.09.018_bb0005
  article-title: Prx1 and Prx2 cooperatively regulate the morphogenesis of the medial region of the mandibular process
  publication-title: Dev. Dyn.
  doi: 10.1002/dvdy.22092
  contributor:
    fullname: Balic
– volume: 45
  start-page: 609
  year: 1993
  ident: 10.1016/j.gene.2012.09.018_bb0180
  article-title: Duplication 9q34–>qter identified by chromosome painting
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/ajmg.1320450519
  contributor:
    fullname: Spinner
– volume: 69
  start-page: 360
  year: 1997
  ident: 10.1016/j.gene.2012.09.018_bb0070
  article-title: Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/(SICI)1096-8628(19970414)69:4<360::AID-AJMG5>3.0.CO;2-P
  contributor:
    fullname: Shapira
– volume: 91
  start-page: 195
  year: 2008
  ident: 10.1016/j.gene.2012.09.018_bb0025
  article-title: Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
  publication-title: Genomics
  doi: 10.1016/j.ygeno.2007.10.011
  contributor:
    fullname: Griggs
– volume: 27
  start-page: 190
  year: 2007
  ident: 10.1016/j.gene.2012.09.018_bb0030
  article-title: Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
  publication-title: Neurobiol. Dis.
  doi: 10.1016/j.nbd.2007.04.015
  contributor:
    fullname: Grundmann
– volume: 24
  start-page: 220
  year: 1983
  ident: 10.1016/j.gene.2012.09.018_bb0040
  article-title: Familial pericentric inversion of chromosome 9, INV(9)(p22q32) with recurrent duplication–deletion
  publication-title: Clin. Genet.
  doi: 10.1111/j.1399-0004.1983.tb02243.x
  contributor:
    fullname: Mattei
– volume: 152A
  start-page: 230
  year: 2010
  ident: 10.1016/j.gene.2012.09.018_bb0080
  article-title: An 18-year follow-up report on an infant with a duplication of 9q34
  publication-title: Am. J. Med. Genet. A
  doi: 10.1002/ajmg.a.33196
  contributor:
    fullname: Youngs
SSID ssj0000552
Score 2.1101475
Snippet Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we...
SourceID proquest
crossref
pubmed
fao
elsevier
SourceType Aggregation Database
Index Database
Publisher
StartPage 451
SubjectTerms 9pter deletion
9qter duplication
Adolescent
Adult
chromosome 9
Chromosome Inversion
chromosomes
Chromosomes, Human, Pair 9
Female
Humans
Intellectual disability
Inversion
monosomics
Monosomy
patients
Pericentric inversion
phenotype
progeny
Recombinant chromosome
Siblings
Single-nucleotide polymorphism
sisters
trisomics
Trisomy
Title Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
URI https://dx.doi.org/10.1016/j.gene.2012.09.018
https://www.ncbi.nlm.nih.gov/pubmed/22995347
https://search.proquest.com/docview/1126613682
https://search.proquest.com/docview/1171876166
Volume 511
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9wwEB7yINAeQh5ts3mhQumlOOuVbK113ISETQO5pAu5BCHZUthC7U3Wm9BLf3tmZLtJoc2hN1tIIGlG33ySRjMAn7JYce8pB6BPTJRYkyIOehkNfeEJHZWywUH2Uo4nydfr9HoJTrq3MORW2WJ_g-kBrduSfjub_dl02r-KBb2SxP0GD9c7iMOraI44qvbq6PxifPkMyGnaXCbQhgkbtG9nGjcvFBNFy6QjQXUUU-6Pv9unZW-qf7PQYI3ONmC9pZFs1PR0E5ZcuQXboxK30D9-ss8sOHaGE_MtWDvuvt6-iD64DTe4nqs51VcznF1myoLVlJKQSu5Egjh3R-XTktWPFZuTQtzPWbFwrK6YYch1QwBpRsGSg5PnNMfKD80J3DuYnJ1-OxlHbbaFKEdDVkeJFN5JVViEHWVFJgeOEpLJvMiR41jhkUiFcDneIS9wCVYQPra45AXPc2_Ee1gpq9LtAEOYGObIbawySMdik1kXWy8zZw3Pi5j34Es3x3rWBNXQnbfZd00S0SQRHSuNEulB2olB_6EaGlH_1XY7KDNtbnHm9OSK09kOXXzijrMHHztBalxOdEdiSlct5ppeVOHAZMZfq4MGfSgHUvbgQ6MFv4fB0bynIhnu_men9-AN_ZHDzCDdh5X6fuEOkPbU9hCWj34NDlvlfgLFcfx6
link.rule.ids 315,783,787,4510,24129,27937,27938,45598,45692
linkProvider Elsevier
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT9wwEB4BFYIeqhYKbJ-uhLhU2fXGiTc-bldFC6VcYCUuyLITG22lJgubbdVLf3tnnKQPqeXQW-RMJMcz_uazPZ4BOMy4ir2nGoA-MVFiTYo46GU08oUndFTKhgDZczmdJadX6dUaTLq7MBRW2WJ_g-kBrduWQTuag8V8Prjggm5J4nojDsc7iMMPEko3jkbd__4rzoOnaXOUQMslFG9vzjRBXqgkypVJG4Kqz6nyx9-907o31b85aPBFx4_hUUsi2bjp5xNYc-UO7I5LXEB__saOWAjrDPvlO7D5rnt6-FvuwV24xtlcLUleLXBsmSkLVlNBQmq5FQmi3C21z0tWf63YkszhbsmKlWN1xQxDphvSRzNKlRxCPOc5Cn9p9t-ewuz4_eVkGrW1FqIc3VgdJVJ4J1VhEXSUFZkcOipHJvMiR4ZjhUcaFZLleIeswCUoIDy3OOFFnOfeiD3YKKvSHQBDkBjlyGysMkjGuMms49bLzFkT5wWPe_C2G2O9aFJq6C7W7JMmjWjSiOZKo0Z6kHZq0H8YhkbMv_e7A9SZNjc4cnp2EdPODh174nqzB286RWqcTHRCYkpXrZaa7lPhj8ksvk8G3flIDqXswX5jBT9_I0bnnopk9Ow_O_0atqaXH8_02cn5h-ewTW8odGaYvoCN-m7lXiIBqu2rYOA_AAmH_VM
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Monosomy+9pter+and+trisomy+9q34.11qter+in+two+sisters+due+to+a+maternal+pericentric+inversion&rft.jtitle=Gene&rft.au=Mundhofir%2C+Farmaditya+E.P&rft.au=Smeets%2C+Dominique&rft.au=Nillesen%2C+Willy&rft.au=Winarni%2C+Tri+Indah&rft.date=2012-12-15&rft.pub=Elsevier+B.V&rft.issn=0378-1119&rft.eissn=1879-0038&rft.volume=511&rft.issue=2&rft.spage=451&rft.epage=454&rft_id=info:doi/10.1016%2Fj.gene.2012.09.018&rft.externalDocID=US201500043924
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0378-1119&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0378-1119&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0378-1119&client=summon