Complete monosomy 21 confirmed by FISH and array-CGH

Saved in:
Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 158A; no. 4; pp. 935 - 937
Main Authors Kulharya, Anita S., Tonk, Vijay S., Lovell, Carolyn, Flannery, David B.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2012
Wiley-Liss
Wiley Subscription Services, Inc
Subjects
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 21 - genetics
Comparative Genomic Hybridization
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Medical genetics
Medical sciences
Monosomy - genetics
Pregnancy
Pregnancy Complications - genetics
Prenatal Diagnosis - methods
Ultrasonography, Prenatal
Chromosomal aberration
Aneuploidy
Molecular biology
Monosomy
Fluorescence in situ hybridization
Online AccessGet full text
ISSN1552-4825
1552-4833
1552-4833
DOI10.1002/ajmg.a.35251

Cover

Author Tonk, Vijay S.
Flannery, David B.
Lovell, Carolyn
Kulharya, Anita S.
Author_xml – sequence: 1
  givenname: Anita S.
  surname: Kulharya
  fullname: Kulharya, Anita S.
  organization: Department of Pediatrics, Georgia Health Sciences University, Augusta, Georgia
– sequence: 2
  givenname: Vijay S.
  surname: Tonk
  fullname: Tonk, Vijay S.
  organization: Department of Pediatrics, Texas Tech University Health Sciences Center Lubbock, Texas
– sequence: 3
  givenname: Carolyn
  surname: Lovell
  fullname: Lovell, Carolyn
  organization: Department of Pediatrics, Georgia Health Sciences University, Augusta, Georgia
– sequence: 4
  givenname: David B.
  surname: Flannery
  fullname: Flannery, David B.
  email: dflanner@georgiahealth.edu
  organization: Department of Pediatrics, Georgia Health Sciences University, Augusta, Georgia
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25664965$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/22407893$$D View this record in MEDLINE/PubMed
BookMark eNp90UtvEzEUBlALFdEH7FijkRDqhgl-e7ysIjopKrAAlKXlOHeQw4wd7Ino_HtckhSpEqzsxfmu7uMcnYQYAKGXBM8IxvSd3QzfZ3bGBBXkCTojQtCaN4ydPPypOEXnOW8wZlgo-QydUsqxajQ7Q3weh20PI1RDDDHHYaooqVwMnU8DrKvVVF3ffFlUNqwrm5Kd6nm7eI6edrbP8OLwXqBv1--_zhf17ef2Zn51WzvOMKm14IB5x4ALSjopFHC8ts1qxal2AmvZUE4pKAXK4W7NtQSuO6ulk9xRotgFutzX3ab4cwd5NIPPDvreBoi7bLRgFDNOaJGvH8lN3KVQmjNESVkGbwgu6tVB7VZlOLNNfrBpMsd1FPDmAGx2tu-SDc7nv05IWboUxdG9cynmnKAzzo929DGMyfreEGzub2Pub2Os-XObEnr7KHSs-w_O9vyX72H6rzVXHz62x1S9T_k8wt1DyqYfRiqmhFl-as2yXdAlbrHR7Df17aqw
CitedBy_id crossref_primary_10_1186_s13039_016_0220_5
crossref_primary_10_1016_j_gene_2012_08_041
crossref_primary_10_1002_ajmg_a_62583
crossref_primary_10_1371_journal_pgen_1005062
crossref_primary_10_1155_2014_965401
Cites_doi 10.1159/000130691
10.1016/j.ejrex2010.08.006
10.1097/00006250-200602001-00041
10.1111/j.1447-0756.2009.01140.x
10.1007/BF00273344
10.1136/jmg.11.4.386
10.1002/pd.244
10.1038/ejhg.2010.150
10.1007/BF00393578
10.1002/ajmg.a.20622
10.1007/BF00273852
10.1111/j.1399-0004.1983.tb01856.x
10.1002/pd.86
10.1002/(SICI)1097-0223(199703)17:3<271::AID-PD51>3.0.CO;2-P
10.1093/hmg/9.13.2051
10.1046/j.1365-2788.1998.00118.x
10.1111/j.1399-0004.2009.01289.x
ContentType Journal Article
Copyright Copyright © 2012 Wiley Periodicals, Inc.
2015 INIST-CNRS
Copyright_xml – notice: Copyright © 2012 Wiley Periodicals, Inc.
– notice: 2015 INIST-CNRS
DBID BSCLL
AAYXX
CITATION
IQODW
CGR
CUY
CVF
ECM
EIF
NPM
7QP
7TK
8FD
FR3
K9.
P64
RC3
7X8
DOI 10.1002/ajmg.a.35251
DatabaseName Istex
CrossRef
Pascal-Francis
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
Calcium & Calcified Tissue Abstracts
Neurosciences Abstracts
Technology Research Database
Engineering Research Database
ProQuest Health & Medical Complete (Alumni)
Biotechnology and BioEngineering Abstracts
Genetics Abstracts
MEDLINE - Academic
DatabaseTitle CrossRef
MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
Genetics Abstracts
Technology Research Database
ProQuest Health & Medical Complete (Alumni)
Engineering Research Database
Calcium & Calcified Tissue Abstracts
Neurosciences Abstracts
Biotechnology and BioEngineering Abstracts
MEDLINE - Academic
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
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
Biology
EISSN 1552-4833
EndPage 937
ExternalDocumentID 3956451631
22407893
25664965
10_1002_ajmg_a_35251
AJMG35251
ark_67375_WNG_WGH2W0G0_9
Genre letter
Journal Article
Case Reports
GroupedDBID ---
.55
.GA
.Y3
05W
10A
1L6
1OC
23M
31~
33P
3O-
4.4
50Y
51W
51X
52M
52N
52O
52P
52S
52T
52W
52X
53G
5GY
5VS
66C
6P2
702
7PT
8-1
8-4
8-5
8UM
930
A03
AAEVG
AAHHS
AANLZ
AAONW
AASGY
AAXRX
AAZKR
ABCQN
ABCUV
ABEML
ABIJN
ACAHQ
ACBWZ
ACCFJ
ACCZN
ACFBH
ACGFO
ACGFS
ACPOU
ACPRK
ACSCC
ACXBN
ACXQS
ADEOM
ADIZJ
ADKYN
ADMGS
ADOZA
ADXAS
ADZMN
ADZOD
AEEZP
AEIGN
AEIMD
AENEX
AEQDE
AEUQT
AEUYR
AFBPY
AFFPM
AFGKR
AFPWT
AFZJQ
AHBTC
AITYG
AIURR
AIWBW
AJBDE
ALMA_UNASSIGNED_HOLDINGS
ALUQN
AMBMR
AMYDB
ATUGU
AZBYB
AZFZN
BDRZF
BFHJK
BRXPI
BSCLL
BY8
C45
CO8
CS3
D-F
DCZOG
DPXWK
DR2
DRFUL
DRSTM
EBD
EBS
EJD
EMOBN
F00
F01
F04
F5P
FEDTE
G-S
GNP
GODZA
HBH
HF~
HGLYW
HHY
HHZ
HVGLF
IX1
JPC
KD1
KQQ
L7B
LATKE
LAW
LC2
LC3
LEEKS
LH4
LITHE
LOXES
LP6
LP7
LUTES
LYRES
MK4
MRFUL
MRSTM
MSFUL
MSSTM
MXFUL
MXSTM
OIG
OVD
P2W
P4D
QB0
QRW
ROL
RWI
RX1
RYL
SUPJJ
SV3
TEORI
UB1
V2E
WIH
WIK
WJL
WQJ
WRC
X7M
XG1
XV2
AAHQN
AAMNL
AANHP
AAYCA
ACRPL
ACYXJ
ADNMO
AFWVQ
ALVPJ
0R~
AAYXX
ABJNI
AEYWJ
AGHNM
AGQPQ
AGYGG
CITATION
AAMMB
AEFGJ
AGXDD
AIDQK
AIDYY
IQODW
CGR
CUY
CVF
ECM
EIF
NPM
1OB
7QP
7TK
8FD
FR3
K9.
P64
RC3
7X8
ID FETCH-LOGICAL-c4301-954e04f3e4521f657e40da8bb429c509682422e77e7c0fd496e49fa96c64c2173
IEDL.DBID DR2
ISSN 1552-4825
1552-4833
IngestDate Fri Jul 11 03:42:39 EDT 2025
Wed Aug 13 09:44:43 EDT 2025
Mon Jul 21 06:02:21 EDT 2025
Mon Jul 21 09:13:20 EDT 2025
Tue Jul 01 00:44:51 EDT 2025
Thu Apr 24 22:54:07 EDT 2025
Wed Jan 22 16:46:56 EST 2025
Wed Oct 30 09:52:30 EDT 2024
IsPeerReviewed true
IsScholarly true
Issue 4
Keywords Chromosomal aberration
Aneuploidy
Molecular biology
Monosomy
Fluorescence in situ hybridization
Language English
License http://onlinelibrary.wiley.com/termsAndConditions#vor
CC BY 4.0
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4301-954e04f3e4521f657e40da8bb429c509682422e77e7c0fd496e49fa96c64c2173
Notes istex:E8CB33B3B0B0FE165D1C7512763956FCDC822B3F
ArticleID:AJMG35251
ark:/67375/WNG-WGH2W0G0-9
How to Cite this Article: Kulharya AS, Tonk VS, Lovell C, Flannery DB. 2012. Complete monosomy 21 confirmed by FISH and array-CGH. Am J Med Genet Part A 158A:935-937.
How to Cite this Article: Kulharya AS, Tonk VS, Lovell C, Flannery DB. 2012. Complete monosomy 21 confirmed by FISH and array‐CGH. Am J Med Genet Part A 158A:935–937.
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
ObjectType-Case Study-2
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
PMID 22407893
PQID 1766030810
PQPubID 2028748
PageCount 3
ParticipantIDs proquest_miscellaneous_953203412
proquest_journals_1766030810
pubmed_primary_22407893
pascalfrancis_primary_25664965
crossref_citationtrail_10_1002_ajmg_a_35251
crossref_primary_10_1002_ajmg_a_35251
wiley_primary_10_1002_ajmg_a_35251_AJMG35251
istex_primary_ark_67375_WNG_WGH2W0G0_9
ProviderPackageCode CITATION
AAYXX
PublicationCentury 2000
PublicationDate April 2012
PublicationDateYYYYMMDD 2012-04-01
PublicationDate_xml – month: 04
  year: 2012
  text: April 2012
PublicationDecade 2010
PublicationPlace Hoboken
PublicationPlace_xml – name: Hoboken
– name: Chichester
– name: United States
PublicationTitle American journal of medical genetics. Part A
PublicationTitleAlternate Am. J. Med. Genet
PublicationYear 2012
Publisher Wiley Subscription Services, Inc., A Wiley Company
Wiley-Liss
Wiley Subscription Services, Inc
Publisher_xml – name: Wiley Subscription Services, Inc., A Wiley Company
– name: Wiley-Liss
– name: Wiley Subscription Services, Inc
References Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, Liehr T, Petersen MB. 2010. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res 36: 435-440.
Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, Herrero F, Valverde E, López-Pajares I. 2004. A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet Part A 127A: 69-73.
Phelan MC. 2002. Additional studies warranted to confirm monosomy 21. Prenat Diagn 22: 160-161.
Cheng PJ, Shaw SW, Shih JC, Soong YK. 2006. Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. Obstet Gynecol 107: 538-541.
Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. 2010. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 77: 145-154. Epub 2009 Oct 23.
Halloran KH, Breg WR, Mahoney MJ. 1974. 21 monosomy in a retarded female infant. J Med Genet 11: 386-389.
Shah MG, Franco A, Willis KM, Kulharya AS, Buckler BS, Bhatia J. 2010. A rare cases of complete monosomy 21 with multiple osseus, cardiac, and vascular anomalies. Eur J Radiol Extra DOI: 10.1016/j.ejrex2010.08.006.
Flaherty L, Moloney J, Watson N, Robson L, Bousfield L, Smith A. 2002. A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. J Intellect Disabil Res 42: p254-p258.
Pellissier MC, Philip N, Voelckel-Baeteman MA, Mattei JF. 1987. Monosomy 21: A new case confirmed by in situ hybridization. Hum Genet 75: 95-96.
Kaneko Y, Ikeuchi T, Sasaki M, Stakae Y, Kuwajima S. 1975. A male infant with monosomy 21. Humangenetik 29: 1-7.
Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. 2000. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet 9: 2051-2058.
Davis JG, Jenkins EC, Klinger HP, Weed RG. 1976. A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-. Cytogenet Cell Genet 17: 65-77.
Joosten AMS, De Vos S, Van Opstal D, Branderburg H, Gaillard JlJ, Vermeij-Keers Ch. 1996. Full monosomy 21, prenatally diagnosed by fluorescent in situ hibridization. Prenat Diagn 17: 271-275.
Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. 2011. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet 19: 235-238. Epub 2010 Sep 8.
Fryns JP, D'Hondt F, Goddeeris P, van den Berghe H. 1977. Full monosomy 21: A clinically recognizable syndrome? Hum Genet 37: 155-159.
Chang LW, Chen PY, Kuo PL, Chang FM. 2001. Prenatal diagnosis of a fetus with megacystis and monosomy 21. Prenat Diagn 21: 512-513.
Wisniewski K, Dambska M, Jenkins EC, Sklower S, Brown WT. 1983. Monosomy 21 syndrome: Further delineation including clinical, neuropathological cytogenetic and biochemical studies. Clin Genet 23: 102-110.
2010; 77
2004; 127A
1987; 75
1974; 11
1996; 17
2010; 36
1977; 37
2002; 42
2010
2000; 9
1975; 29
2002; 22
1976; 17
2006; 107
2011; 19
2001; 21
1983; 23
e_1_2_2_4_1
e_1_2_2_14_1
e_1_2_2_5_1
e_1_2_2_13_1
e_1_2_2_6_1
e_1_2_2_12_1
e_1_2_2_7_1
e_1_2_2_11_1
e_1_2_2_10_1
e_1_2_2_2_1
e_1_2_2_3_1
e_1_2_2_9_1
e_1_2_2_18_1
e_1_2_2_8_1
e_1_2_2_17_1
e_1_2_2_16_1
e_1_2_2_15_1
References_xml – reference: Davis JG, Jenkins EC, Klinger HP, Weed RG. 1976. A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-. Cytogenet Cell Genet 17: 65-77.
– reference: Cheng PJ, Shaw SW, Shih JC, Soong YK. 2006. Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. Obstet Gynecol 107: 538-541.
– reference: Wisniewski K, Dambska M, Jenkins EC, Sklower S, Brown WT. 1983. Monosomy 21 syndrome: Further delineation including clinical, neuropathological cytogenetic and biochemical studies. Clin Genet 23: 102-110.
– reference: Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. 2010. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 77: 145-154. Epub 2009 Oct 23.
– reference: Pellissier MC, Philip N, Voelckel-Baeteman MA, Mattei JF. 1987. Monosomy 21: A new case confirmed by in situ hybridization. Hum Genet 75: 95-96.
– reference: Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, Herrero F, Valverde E, López-Pajares I. 2004. A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet Part A 127A: 69-73.
– reference: Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. 2011. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet 19: 235-238. Epub 2010 Sep 8.
– reference: Joosten AMS, De Vos S, Van Opstal D, Branderburg H, Gaillard JlJ, Vermeij-Keers Ch. 1996. Full monosomy 21, prenatally diagnosed by fluorescent in situ hibridization. Prenat Diagn 17: 271-275.
– reference: Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. 2000. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet 9: 2051-2058.
– reference: Halloran KH, Breg WR, Mahoney MJ. 1974. 21 monosomy in a retarded female infant. J Med Genet 11: 386-389.
– reference: Shah MG, Franco A, Willis KM, Kulharya AS, Buckler BS, Bhatia J. 2010. A rare cases of complete monosomy 21 with multiple osseus, cardiac, and vascular anomalies. Eur J Radiol Extra DOI: 10.1016/j.ejrex2010.08.006.
– reference: Chang LW, Chen PY, Kuo PL, Chang FM. 2001. Prenatal diagnosis of a fetus with megacystis and monosomy 21. Prenat Diagn 21: 512-513.
– reference: Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, Liehr T, Petersen MB. 2010. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res 36: 435-440.
– reference: Flaherty L, Moloney J, Watson N, Robson L, Bousfield L, Smith A. 2002. A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. J Intellect Disabil Res 42: p254-p258.
– reference: Fryns JP, D'Hondt F, Goddeeris P, van den Berghe H. 1977. Full monosomy 21: A clinically recognizable syndrome? Hum Genet 37: 155-159.
– reference: Kaneko Y, Ikeuchi T, Sasaki M, Stakae Y, Kuwajima S. 1975. A male infant with monosomy 21. Humangenetik 29: 1-7.
– reference: Phelan MC. 2002. Additional studies warranted to confirm monosomy 21. Prenat Diagn 22: 160-161.
– volume: 127A
  start-page: 69
  year: 2004
  end-page: 73
  article-title: A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings
  publication-title: Am J Med Genet Part A
– volume: 11
  start-page: 386
  year: 1974
  end-page: 389
  article-title: 21 monosomy in a retarded female infant
  publication-title: J Med Genet
– volume: 22
  start-page: 160
  year: 2002
  end-page: 161
  article-title: Additional studies warranted to confirm monosomy 21
  publication-title: Prenat Diagn
– volume: 23
  start-page: 102
  year: 1983
  end-page: 110
  article-title: Monosomy 21 syndrome: Further delineation including clinical, neuropathological cytogenetic and biochemical studies
  publication-title: Clin Genet
– volume: 9
  start-page: 2051
  year: 2000
  end-page: 2058
  article-title: Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
  publication-title: Hum Mol Genet
– volume: 21
  start-page: 512
  year: 2001
  end-page: 513
  article-title: Prenatal diagnosis of a fetus with megacystis and monosomy 21
  publication-title: Prenat Diagn
– volume: 37
  start-page: 155
  year: 1977
  end-page: 159
  article-title: Full monosomy 21: A clinically recognizable syndrome
  publication-title: Hum Genet
– volume: 77
  start-page: 145
  year: 2010
  end-page: 154
  article-title: Detailed molecular and clinical characterization of three patients with 21q deletions
  publication-title: Clin Genet
– year: 2010
  article-title: A rare cases of complete monosomy 21 with multiple osseus, cardiac, and vascular anomalies
  publication-title: Eur J Radiol Extra
– volume: 42
  start-page: p254
  year: 2002
  end-page: p258
  article-title: A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization
  publication-title: J Intellect Disabil Res
– volume: 36
  start-page: 435
  year: 2010
  end-page: 440
  article-title: Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature
  publication-title: J Obstet Gynaecol Res
– volume: 75
  start-page: 95
  year: 1987
  end-page: 96
  article-title: Monosomy 21: A new case confirmed by in situ hybridization
  publication-title: Hum Genet
– volume: 107
  start-page: 538
  year: 2006
  end-page: 541
  article-title: Monozygotic twins discordant for monosomy 21 detected by first‐trimester nuchal translucency screening
  publication-title: Obstet Gynecol
– volume: 19
  start-page: 235
  year: 2011
  end-page: 238
  article-title: Genomic analysis of partial 21q monosomies with variable phenotypes
  publication-title: Eur J Hum Genet
– volume: 17
  start-page: 65
  year: 1976
  end-page: 77
  article-title: A child with presumptive monosomy 21 (45,XY,‐21) in a family in which some members are Gq‐
  publication-title: Cytogenet Cell Genet
– volume: 17
  start-page: 271
  year: 1996
  end-page: 275
  article-title: Full monosomy 21, prenatally diagnosed by fluorescent in situ hibridization
  publication-title: Prenat Diagn
– volume: 29
  start-page: 1
  year: 1975
  end-page: 7
  article-title: A male infant with monosomy 21
  publication-title: Humangenetik
– ident: e_1_2_2_4_1
  doi: 10.1159/000130691
– ident: e_1_2_2_17_1
  doi: 10.1016/j.ejrex2010.08.006
– ident: e_1_2_2_3_1
  doi: 10.1097/00006250-200602001-00041
– ident: e_1_2_2_11_1
  doi: 10.1111/j.1447-0756.2009.01140.x
– ident: e_1_2_2_9_1
  doi: 10.1007/BF00273344
– ident: e_1_2_2_7_1
  doi: 10.1136/jmg.11.4.386
– ident: e_1_2_2_14_1
  doi: 10.1002/pd.244
– ident: e_1_2_2_15_1
  doi: 10.1038/ejhg.2010.150
– ident: e_1_2_2_6_1
  doi: 10.1007/BF00393578
– ident: e_1_2_2_12_1
  doi: 10.1002/ajmg.a.20622
– ident: e_1_2_2_13_1
  doi: 10.1007/BF00273852
– ident: e_1_2_2_18_1
  doi: 10.1111/j.1399-0004.1983.tb01856.x
– ident: e_1_2_2_2_1
  doi: 10.1002/pd.86
– ident: e_1_2_2_8_1
  doi: 10.1002/(SICI)1097-0223(199703)17:3<271::AID-PD51>3.0.CO;2-P
– ident: e_1_2_2_16_1
  doi: 10.1093/hmg/9.13.2051
– ident: e_1_2_2_5_1
  doi: 10.1046/j.1365-2788.1998.00118.x
– ident: e_1_2_2_10_1
  doi: 10.1111/j.1399-0004.2009.01289.x
SSID ssj0030576
Score 1.9734541
SourceID proquest
pubmed
pascalfrancis
crossref
wiley
istex
SourceType Aggregation Database
Index Database
Enrichment Source
Publisher
StartPage 935
SubjectTerms Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 21 - genetics
Comparative Genomic Hybridization
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Medical genetics
Medical sciences
Monosomy - genetics
Pregnancy
Pregnancy Complications - genetics
Prenatal Diagnosis - methods
Ultrasonography, Prenatal
Title Complete monosomy 21 confirmed by FISH and array-CGH
URI https://api.istex.fr/ark:/67375/WNG-WGH2W0G0-9/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fajmg.a.35251
https://www.ncbi.nlm.nih.gov/pubmed/22407893
https://www.proquest.com/docview/1766030810
https://www.proquest.com/docview/953203412
Volume 158A
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NbtQwEB6hIhAXfspfoFQ-ABfINus6TnKsKjah0vYAVNubZSd2BaVZlOxKLCcegWfkSZiJsymLAAlukWJHGs-M55t4_A3A03EprXM8Dt2-jULBKxuaRLowdanQxCCWGrrgPD2WxYk4Oo1P-x9udBfG80MMP9zIM7r9mhxcm3bvkjRUf7g4G-kR0XlS9kPlWoSJ3gzsUWjJXW85IhkLBWZCfd07Tt_7efJGRLpKi_uZKiR1i4vkfHeL38HPTTTbhaPJLVBrQXwVyvlouTCj8ssvHI__L-ltuNkjVXbgTesOXLH1NlzzvStX23B92p_K3wVJmwrq3zK06Xk7v1gxPmaYaLv3DYrAzIpNXr8tmK4rpptGr75__XaYF_fgZPLq3WER9v0YwlLgPhBmsbCRQKUKjPlOxokVUaVTYzCmlUQjk2K85zZJbFJGrhKZtCJzOpOlFCWmPvv3Yaue1_YhMKeTqExjrnWKkMY5I9PKmEo4maU6s1UAL9Y6UWVPVk49Mz4qT7PMFS2K0qpblACeDaM_eZKOP4x73ql3GKSbcypsS2I1O87VLC_4LMojlQWwu6H_YQICREkM-wHsrA1C9U7fKuLaJPqfcRQAG16ju9IZjK7tfNmqjBpxIHLgATzwdnT5bUquET4G8LKzhr-Kog6Opnn39Ojfhj-GG4j5uC8-2oGtRbO0TxBXLcxu5z0_ALlCGo0
linkProvider Wiley-Blackwell
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV3NbtQwEB6hVkAv_JS_QCk-ABfINps6TnKsKjZp6e4BWm1vxk5sVEqzKLsrsZx4BJ6RJ2HGyaYsAiTELVLsSDOe8XwTj78BeNovhLE2jHy7awKfh6XxdSysn9iEK2IQSzRdcB6ORH7CD0-j07bPKd2Fafghuh9u5BluvyYHpx_SO5esoerDxfue6hGfJ6Y_69TU2-VUbzr-KLRl112OaMZ8jrlQW_mO83d-nr0Sk9ZJvZ-pRlJNUU226W_xOwC6imddQBrchHdLUZo6lPPefKZ7xZdfWB7_Q9ZbcKMFq2yvsa7bcMVUm3C1aV-52IRrw_Zg_g4I2lfQBAxDs55MJxcLFvYZ5tr2rEYZmF6wwcHbnKmqZKqu1eL712_7WX4XTgavjvdzv23J4BcctwI_jbgJOK4rx7BvRRQbHpQq0RrDWkFMMgmG_NDEsYmLwJY8FYanVqWiELzA7Gf3HqxVk8o8AGZVHBRJFCqVIKqxVouk1LrkVqSJSk3pwYvlosii5SunthkfZcO0HEpSilTSKcWDZ93oTw1Pxx_GPXfr2w1S9TnVtsWRHI8yOc7ycBxkgUw92F4xgG4CYkRBJPsebC0tQrZ-P5VEt0kMQP3AA9a9Ro-lYxhVmcl8KlPqxYHgIfTgfmNIl9-m_BoRpAcvnTn8VRS5dzjM3NPDfxv-BK7nx8MjeXQwev0INhAChk0t0haszeq5eYwwa6a3nSv9AFUFHqg
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NbtQwEB6hVlRc-ClQAqX4AFwg22zqOM6xatmkhV0hoNreLDuxEZRmq-yuxHLiEXhGnoSZJJuyCJDgFil2pPHMeL6Jx98APO7nwjoXRr7bs4HPw8L6JhbOl05yTQxi0tAF5-FIZCf8-DQ6bX-40V2Yhh-i--FGnlHv1-TgF4XbvSQN1R_P3_d0j-g8MftZ5yKQZNWHbzr6KDTlurkcsYz5HFOhtvAd5-_-PHslJK3T6n6mEkk9xVVyTXuL3-HPVThbx6PBDVBLSZoylLPefGZ6-ZdfSB7_X9SbcL2Fqmy_sa1bcMWWm3C1aV652ISNYXssfxsE7SpoAJahUU-mk_MFC_sMM233oUIRmFmwwdHbjOmyYLqq9OL7128HaXYHTgYv3h1kftuQwc85bgR-EnEbcNQqx6DvRBRbHhRaGoNBLSceGYkBP7RxbOM8cAVPhOWJ04nIBc8x99m7C2vlpLT3gDkdB7mMQq0lYhrnjJCFMQV3IpE6sYUHz5Y6UXnLVk5NMz6phmc5VLQoSqt6UTx40o2-aFg6_jDuaa3ebpCuzqiyLY7UeJSqcZqF4yANVOLBzor-uwmIEAVR7HuwvTQI1Xr9VBHZJvH_9AMPWPca_ZUOYXRpJ_OpSqgTB0KH0IOtxo4uv03ZNeJHD57X1vBXUdT-8TCtn-7_2_BHsPH6cKBeHY1ePoBriP_CphBpG9Zm1dw-RIw1Mzu1I_0A-28dYA
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=Complete+monosomy+21+confirmed+by+FISH+and+array%E2%80%90CGH&rft.jtitle=American+journal+of+medical+genetics.+Part+A&rft.au=Kulharya%2C+Anita+S.&rft.au=Tonk%2C+Vijay+S.&rft.au=Lovell%2C+Carolyn&rft.au=Flannery%2C+David+B.&rft.date=2012-04-01&rft.issn=1552-4825&rft.eissn=1552-4833&rft.volume=158A&rft.issue=4&rft.spage=935&rft.epage=937&rft_id=info:doi/10.1002%2Fajmg.a.35251&rft.externalDBID=n%2Fa&rft.externalDocID=10_1002_ajmg_a_35251
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1552-4825&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1552-4825&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1552-4825&client=summon