Pure partial trisomy of the short arm of chromosome 5

We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with tho...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics Vol. 82; no. 3; pp. 296 - 298
Main Authors: RETHORE, M. O, DE BLOIS, M. C, PEETERS, M, POPOWSKI, P, PANGALOS, C, LEJEUNE, J
Format: Journal Article
Language:English
Published: Heidelberg Springer 01-06-1989
Berlin
New York, NY
Subjects:
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Abstract We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.
AbstractList We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.
The authors describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32 arrow right 5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.
Author POPOWSKI, P
PANGALOS, C
RETHORE, M. O
LEJEUNE, J
PEETERS, M
DE BLOIS, M. C
Author_xml – sequence: 1
  givenname: M. O
  surname: RETHORE
  fullname: RETHORE, M. O
  organization: Inst. progenèse, Paris 75270, France
– sequence: 2
  givenname: M. C
  surname: DE BLOIS
  fullname: DE BLOIS, M. C
  organization: Inst. progenèse, Paris 75270, France
– sequence: 3
  givenname: M
  surname: PEETERS
  fullname: PEETERS, M
  organization: Inst. progenèse, Paris 75270, France
– sequence: 4
  givenname: P
  surname: POPOWSKI
  fullname: POPOWSKI, P
  organization: Inst. progenèse, Paris 75270, France
– sequence: 5
  givenname: C
  surname: PANGALOS
  fullname: PANGALOS, C
  organization: Inst. progenèse, Paris 75270, France
– sequence: 6
  givenname: J
  surname: LEJEUNE
  fullname: LEJEUNE, J
  organization: Inst. progenèse, Paris 75270, France
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7318414$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/2731942$$D View this record in MEDLINE/PubMed
BookMark eNqF0U1Lw0AQBuBFlNpWL96FHMSDEJ3Zz-xRi1WhoAc9h-1mQyNJtu4mh_57Uxrq0dPAvA9zeGdGTlvfOkKuEO4RQD08LQGoRlTqhEyRM5oiBXZKpsA4pFKhOiezGL8BUGgqJmRCFUPN6ZSIjz64ZGtCV5k66UIVfbNLfJl0G5fEjQ9dYkKzX9hN8I0fYpeIC3JWmjq6y3HOydfy-XPxmq7eX94Wj6vUMk671FootLWqMNagZkKLDGgmhZVOOC4RLdUSjFBrqxRX4AzQslwLCbwQBhWbk9vD3W3wP72LXd5U0bq6Nq3zfcyVBgpaiX8hCoYSsj28O0AbfIzBlfk2VI0Juxwh35eZ_5U54Ovxar9uXHGkY3tDfjPmJlpTl8G0topHNqiMD-_4BVB1epA
CODEN HUGEDQ
CitedBy_id crossref_primary_10_1002__SICI_1096_8628_19961002_65_1_56__AID_AJMG9_3_0_CO_2_W
crossref_primary_10_1002__SICI_1096_8628_19991105_87_1_6__AID_AJMG2_3_0_CO_2_I
crossref_primary_10_1002_ajmg_1320420515
crossref_primary_10_1016_j_ejmg_2010_12_012
crossref_primary_10_1016_j_ejmg_2015_03_004
crossref_primary_10_1002_ajmg_a_30966
crossref_primary_10_1002__SICI_1096_8628_19970211_68_4_476__AID_AJMG21_3_0_CO_2_O
crossref_primary_10_1002__SICI_1096_8628_19970414_69_4_400__AID_AJMG12_3_0_CO_2_R
crossref_primary_10_1177_8756479312442005
crossref_primary_10_1002__SICI_1096_8628_19990716_85_2_99__AID_AJMG1_3_0_CO_2_W
crossref_primary_10_1002_ajmg_a_63030
crossref_primary_10_1002_ajmg_1320450623
crossref_primary_10_1002_ajmg_10459
crossref_primary_10_1016_j_ejmg_2012_10_002
crossref_primary_10_1111_j_1399_0004_1992_tb03402_x
crossref_primary_10_1111_j_1442_200X_1993_tb03065_x
crossref_primary_10_1002_ajmg_a_30791
Cites_doi 10.1203/00006450-197704000-00928
10.1111/j.1651-2227.1964.tb07224.x
10.1007/BF01876527
10.1111/j.1399-0004.1988.tb03472.x
10.1136/jmg.20.5.394
10.1136/jmg.14.4.271
10.1002/ajmg.1320200109
10.1002/ajmg.1320140114
10.1007/BF01876528
10.1111/j.1469-1809.1973.tb00600.x
10.1111/j.1399-0004.1987.tb03323.x
10.1111/j.1399-0004.1987.tb02771.x
10.1007/BF00273310
10.1002/ajmg.1320140125
10.1002/ajmg.1320130309
ContentType Journal Article
Copyright 1989 INIST-CNRS
Copyright_xml – notice: 1989 INIST-CNRS
DBID IQODW
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
8FD
FR3
P64
RC3
7X8
DOI 10.1007/BF00291177
DatabaseName Pascal-Francis
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
Technology Research Database
Engineering Research Database
Biotechnology and BioEngineering Abstracts
Genetics Abstracts
MEDLINE - Academic
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
Genetics Abstracts
Engineering Research Database
Technology Research Database
Biotechnology and BioEngineering Abstracts
MEDLINE - Academic
DatabaseTitleList MEDLINE
Genetics Abstracts
MEDLINE - Academic
Database_xml – sequence: 1
  dbid: ECM
  name: MEDLINE
  url: https://search.ebscohost.com/login.aspx?direct=true&db=cmedm&site=ehost-live
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Biology
EISSN 1432-1203
EndPage 298
ExternalDocumentID 10_1007_BF00291177
2731942
7318414
Genre Research Support, Non-U.S. Gov't
Journal Article
Case Reports
GroupedDBID ---
--Z
-4W
-56
-5G
-BR
-EM
-Y2
-~C
-~X
.55
.86
.GJ
.VR
06C
06D
0R~
0VY
199
1N0
1SB
2.D
203
28-
29I
29~
2J2
2JN
2JY
2KG
2KM
2LR
2P1
2VQ
2~H
30V
36B
3O-
3SX
3V.
4.4
406
408
409
40D
40E
53G
5GY
5QI
5VS
67N
67Z
6NX
78A
7X7
85S
88A
88E
8AO
8C1
8FE
8FH
8FI
8FJ
8TC
8UJ
95-
95.
95~
96X
AAAVM
AABHQ
AABQG
AABYN
AAFGU
AAHNG
AAIAL
AAJKR
AANXM
AANZL
AAPBV
AARHV
AARTL
AATNV
AATVU
AAUGY
AAUYE
AAWCG
AAYFA
AAYIU
AAYQN
AAYTO
ABBBX
ABBXA
ABDZT
ABECU
ABFGW
ABFTV
ABHLI
ABHQN
ABJOX
ABKAS
ABKCH
ABKTR
ABLJU
ABMNI
ABMQK
ABNWP
ABOCM
ABPLI
ABPTK
ABQBU
ABSXP
ABTEG
ABTHY
ABTKH
ABTMW
ABULA
ABUWG
ABWNU
ABXPI
ACBMV
ACBRV
ACBXY
ACBYP
ACGFS
ACHSB
ACHXU
ACIGE
ACIPQ
ACKNC
ACMDZ
ACMLO
ACOKC
ACOMO
ACPRK
ACTTH
ACVWB
ACWMK
ADBBV
ADHHG
ADHIR
ADIMF
ADINQ
ADKNI
ADKPE
ADMDM
ADOAH
ADOXG
ADRFC
ADTPH
ADURQ
ADYFF
ADYPR
ADZKW
AEBTG
AEEQQ
AEFIE
AEFTE
AEGAL
AEGNC
AEJHL
AEJRE
AEKMD
AENEX
AEOHA
AEPYU
AESKC
AESTI
AETLH
AEVLU
AEVTX
AEXYK
AFDYV
AFEXP
AFFNX
AFGCZ
AFKRA
AFLOW
AFNRJ
AFQWF
AFWTZ
AFZKB
AGAYW
AGDGC
AGGBP
AGGDS
AGJBK
AGMZJ
AGQMX
AGWIL
AGWZB
AGYKE
AHAVH
AHBYD
AHKAY
AHMBA
AHSBF
AHYZX
AIAKS
AIIXL
AILAN
AIMYW
AITGF
AJBLW
AJDOV
AJRNO
AJZVZ
AKMHD
AKQUC
ALMA_UNASSIGNED_HOLDINGS
ALWAN
AMKLP
AMXSW
AMYLF
AMYQR
AOCGG
AOSHJ
ARMRJ
ASPBG
AVWKF
AXYYD
AZFZN
B-.
BA0
BBNVY
BBWZM
BDATZ
BENPR
BGNMA
BHPHI
BPHCQ
BVXVI
CAG
CCPQU
COF
CS3
CSCUP
DDRTE
DL5
DNIVK
DPUIP
DU5
EBD
EBLON
EBS
EIOEI
EJD
EMB
EMOBN
EN4
EPAXT
ESBYG
F5P
FEDTE
FERAY
FFXSO
FIGPU
FINBP
FNLPD
FRRFC
FSGXE
FWDCC
FYUFA
G-Y
G-Z
GGCAI
GGRSB
GJIRD
GNWQR
GQ6
GQ7
GQ8
GXS
H13
HCIFZ
HF~
HG5
HG6
HMJXF
HQYDN
HRMNR
HZ~
I09
IAO
IHE
IHR
IJ-
IKXTQ
INH
INR
IQODW
ISR
ITC
ITM
IWAJR
IXC
IZIGR
IZQ
I~X
I~Z
J-C
J0Z
JBSCW
JCJTX
JZLTJ
KDC
KOV
KOW
KPH
L7B
LAS
LK8
LLZTM
M0L
M1P
M4Y
M7P
MA-
N2Q
N9A
NB0
NDZJH
NPVJJ
NQJWS
NU0
O9-
O93
O9G
O9I
O9J
OAM
P19
P2P
PF0
PQQKQ
PROAC
PSQYO
PT4
PT5
Q2X
QOK
QOR
QOS
R89
R9I
RHV
RIG
RNI
RNS
ROL
RPX
RRX
RSV
RZK
S16
S1Z
S26
S27
S28
S3A
S3B
SAP
SBL
SBY
SCLPG
SDH
SDM
SHX
SISQX
SJYHP
SNE
SNPRN
SNX
SOHCF
SOJ
SPISZ
SRMVM
SSLCW
SSXJD
STPWE
SV3
SZN
T13
T16
TSG
TSK
TSV
TUC
U2A
U9L
UG4
UKHRP
UNUBA
UOJIU
UTJUX
UZXMN
VC2
VFIZW
W23
W48
WH7
WJK
WK6
WK8
X7J
X7M
YLTOR
Z45
Z7U
Z7W
Z81
Z82
Z83
Z87
Z8O
Z8Q
Z8U
Z8V
Z8W
Z91
ZA5
ZGI
ZMTXR
ZOVNA
~EX
~KM
AACDK
AAEOY
AAJBT
AAQLM
AASML
AAYZH
ABAKF
ABJNI
ACAOD
ACDTI
ACZOJ
AEFQL
AEMSY
AFBBN
AGQEE
AGRTI
AIGIU
ALIPV
CGR
CUY
CVF
ECM
EIF
HMCUK
HVGLF
NPM
AAYXX
CITATION
8FD
FR3
P64
RC3
7X8
ID FETCH-LOGICAL-c342t-cc0d9cc7daca193595802865c6e5e4611c2960a57bc77470ea02ffb5604d5a173
ISSN 0340-6717
IngestDate Fri Oct 25 08:26:13 EDT 2024
Sat Oct 26 00:44:21 EDT 2024
Thu Nov 21 23:43:31 EST 2024
Wed Oct 16 00:49:56 EDT 2024
Sun Oct 29 17:08:23 EDT 2023
IsPeerReviewed true
IsScholarly true
Issue 3
Keywords Chromosomal aberration
Human
Partial trisomy
Family study
Stomatology
B5-Chromosome
Cytogenetics
Abnormal chromosome
Male
Infant
Dysmorphic facies
Language English
License CC BY 4.0
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-c342t-cc0d9cc7daca193595802865c6e5e4611c2960a57bc77470ea02ffb5604d5a173
Notes ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Case Study-2
ObjectType-Feature-4
ObjectType-Report-1
ObjectType-Article-3
PMID 2731942
PQID 15316085
PQPubID 23462
PageCount 3
ParticipantIDs proquest_miscellaneous_79020975
proquest_miscellaneous_15316085
crossref_primary_10_1007_BF00291177
pubmed_primary_2731942
pascalfrancis_primary_7318414
PublicationCentury 1900
PublicationDate 1989-06-01
PublicationDateYYYYMMDD 1989-06-01
PublicationDate_xml – month: 06
  year: 1989
  text: 1989-06-01
  day: 01
PublicationDecade 1980
PublicationPlace Heidelberg
Berlin
New York, NY
PublicationPlace_xml – name: Berlin
– name: Heidelberg
– name: New York, NY
– name: Germany
PublicationTitle Human genetics
PublicationTitleAlternate Hum Genet
PublicationYear 1989
Publisher Springer
Publisher_xml – name: Springer
References FSW Brimblecombe (CR1) 1977; 14
E Orye (CR17) 1983; 20
E Viegas-Pequignot (CR21) 1978; 21
JF Cordero (CR5) 1977; 11
A Kleczkowska (CR9) 1987; 32
J Kunze (CR10) 1980
HE Wyandt (CR22) 1980; 32
KH Gustavson (CR7) 1988; 33
J Lejeune (CR13) 1964; 258
MM Cohen (CR4) 1983; 14
CG Palmer (CR19) 1977; 29
A Carnevale (CR2) 1982; 13
NJ Martin (CR15) 1985; 20
J Lejeune (CR12) 1963; 257
GS Pai (CR18) 1983; 14
T Kajii (CR8) 1987; 32
KH Gustavson (CR6) 1964; 53
NL Chia (CR3) 1987; 31
AJ Therkelsen (CR20) 1973; 36
J Lejeune (CR11) 1965; 8
K Narahara (CR16) 1987; 32
NJ Leschot (CR14) 1979; 46
References_xml – volume: 11
  start-page: 535
  year: 1977
  ident: CR5
  publication-title: Pediatr Res
  doi: 10.1203/00006450-197704000-00928
  contributor:
    fullname: JF Cordero
– volume: 53
  start-page: 172
  year: 1964
  ident: CR6
  publication-title: Acta Paediatr Scand
  doi: 10.1111/j.1651-2227.1964.tb07224.x
  contributor:
    fullname: KH Gustavson
– volume: 32
  start-page: 45
  year: 1987
  ident: CR8
  publication-title: Jpn J Hum Genet
  doi: 10.1007/BF01876527
  contributor:
    fullname: T Kajii
– volume: 33
  start-page: 404
  year: 1988
  ident: CR7
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.1988.tb03472.x
  contributor:
    fullname: KH Gustavson
– volume: 258
  start-page: 5767
  year: 1964
  ident: CR13
  publication-title: CR Acad Sci [III]
  contributor:
    fullname: J Lejeune
– volume: 20
  start-page: 394
  year: 1983
  ident: CR17
  publication-title: J Med Genet
  doi: 10.1136/jmg.20.5.394
  contributor:
    fullname: E Orye
– volume: 14
  start-page: 271
  year: 1977
  ident: CR1
  publication-title: J Med Genet
  doi: 10.1136/jmg.14.4.271
  contributor:
    fullname: FSW Brimblecombe
– volume: 29
  start-page: 371
  year: 1977
  ident: CR19
  publication-title: Am J Hum Genet
  contributor:
    fullname: CG Palmer
– volume: 20
  start-page: 57
  year: 1985
  ident: CR15
  publication-title: Am J Med Genet
  doi: 10.1002/ajmg.1320200109
  contributor:
    fullname: NJ Martin
– volume: 14
  start-page: 89
  year: 1983
  ident: CR4
  publication-title: Am J Med Genet
  doi: 10.1002/ajmg.1320140114
  contributor:
    fullname: MM Cohen
– volume: 32
  start-page: 731
  year: 1980
  ident: CR22
  publication-title: Am J Hum Genet
  contributor:
    fullname: HE Wyandt
– start-page: 201
  volume-title: Klinische Genetik in der Pädiatrie 2
  year: 1980
  ident: CR10
  contributor:
    fullname: J Kunze
– volume: 257
  start-page: 3098
  year: 1963
  ident: CR12
  publication-title: CR Acad Sci Paris [III]
  contributor:
    fullname: J Lejeune
– volume: 32
  start-page: 49
  year: 1987
  ident: CR16
  publication-title: Jpn J Hum Genet
  doi: 10.1007/BF01876528
  contributor:
    fullname: K Narahara
– volume: 21
  start-page: 122
  year: 1978
  ident: CR21
  publication-title: Ann Génét (Paris)
  contributor:
    fullname: E Viegas-Pequignot
– volume: 36
  start-page: 367
  year: 1973
  ident: CR20
  publication-title: Ann Hum Genet
  doi: 10.1111/j.1469-1809.1973.tb00600.x
  contributor:
    fullname: AJ Therkelsen
– volume: 32
  start-page: 49
  year: 1987
  ident: CR9
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.1987.tb03323.x
  contributor:
    fullname: A Kleczkowska
– volume: 8
  start-page: 21
  year: 1965
  ident: CR11
  publication-title: Ann Génét (Paris)
  contributor:
    fullname: J Lejeune
– volume: 31
  start-page: 65
  year: 1987
  ident: CR3
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.1987.tb02771.x
  contributor:
    fullname: NL Chia
– volume: 46
  start-page: 271
  year: 1979
  ident: CR14
  publication-title: Hum Genet
  doi: 10.1007/BF00273310
  contributor:
    fullname: NJ Leschot
– volume: 14
  start-page: 189
  year: 1983
  ident: CR18
  publication-title: Am J Med Genet
  doi: 10.1002/ajmg.1320140125
  contributor:
    fullname: GS Pai
– volume: 13
  start-page: 277
  year: 1982
  ident: CR2
  publication-title: Am J Med Genet
  doi: 10.1002/ajmg.1320130309
  contributor:
    fullname: A Carnevale
SSID ssj0015925
Score 1.4448954
Snippet We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His...
The authors describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32 arrow right 5p14.2 as a result of...
SourceID proquest
crossref
pubmed
pascalfrancis
SourceType Aggregation Database
Index Database
StartPage 296
SubjectTerms Biological and medical sciences
Chromosome aberrations
Chromosome Banding
Chromosomes, Human, Pair 5
Female
Humans
Infant
Karyotyping
Male
Medical genetics
Medical sciences
Pedigree
Trisomy
Title Pure partial trisomy of the short arm of chromosome 5
URI https://www.ncbi.nlm.nih.gov/pubmed/2731942
https://search.proquest.com/docview/15316085
https://search.proquest.com/docview/79020975
Volume 82
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://sdu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1ba9swFBa9MBiMsVtZunYTbG_BYMu6WI-9uIQR2kBT6JuRJZkWtjjUDaX_vkeWZScbZdvDXkw4FodwPvnoXHUQ-sZLpRQrbcTBs46oKVWkOGeRtDYlic1s1s46nFyK8-vsNKd5mFUOXn9P-69IAw2wdp2z_4B2zxQI8BswhyegDs-_wn3mMgJL96ItI79tat8v4gzM5gaM7bG6-9kWk9-4Sjx4bcds3UT1YX3g79obh0p4N2m6C2NfBKKx4-Mf9e0vAeuZdSU2zUaodVYv64duRPZsiDT4UqpQERU6rNpWAd9rGbRnRtZ2SbquCiVfO1WJnzX9m8KOQxl6TKTLHw_HUkjFn18UZ1fTaTHPr-fbaJeAQgF9tnuUf59M-3wRk-143f4fbl5E2_HeMD1eLVUDX0Hlx5c871-0dsb8DXrdOQj4yCP7Fm3ZxTv0wo8MfXyPmMMXd_jiDl9cVxjwxS2-GPB1hAFfzD6gq7N8fjKJutEXkU4puY-0jo3UWhilVdI2T2ex6yHW3DJLeZJoEG-smCg12O8itiomVVWC-UoNU4lI99DOol7YjwhXKlU8VSS2wlAmpKyYs9sqaoiW3JQj9DVIpVj6G06KcJf1ILsROtwQWL9UwKFAEzpCX4IAC1BQLuukFrZeNQUcqQkHw_75FUKCzyIFrNjzku-Zg22dSEr2_8j8E3o57NgDtHN_t7KHaLsxq8_dVnkCLzdpXg
link.rule.ids 315,782,786,27933,27934
linkProvider Springer Nature
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=Pure+partial+trisomy+of+the+short+arm+of+chromosome+5&rft.jtitle=Human+genetics&rft.au=Rethore%2C+MO&rft.au=de+Blois%2C+MC&rft.au=Peeters%2C+M&rft.au=Popowski%2C+P&rft.date=1989-06-01&rft.issn=0340-6717&rft.volume=82&rft.issue=3&rft.spage=296&rft.epage=298&rft_id=info:doi/10.1007%2FBF00291177&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0340-6717&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0340-6717&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0340-6717&client=summon