Class information for:
Level 1: MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
14963 739 22.7 62%



Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes

The table includes all classes above and classes immediately below the current class.



Cluster id Level Cluster label #P
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
196 3       GENETICS & HEREDITY//FRAGILE X SYNDROME//AMERICAN JOURNAL OF MEDICAL GENETICS 53756
395 2             GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY 16816
14963 1                   MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20 739

Terms with highest relevance score



rank Term termType Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 MONOSOMY 21 authKW 569406 3% 66% 21
2 RING CHROMOSOME 21 authKW 476373 2% 82% 14
3 RING CHROMOSOME 20 authKW 410748 2% 76% 13
4 RING CHROMOSOME authKW 336455 4% 26% 31
5 RING CHROMOSOME 15 authKW 293818 1% 89% 8
6 RING CHROMOSOME 20 SYNDROME authKW 289229 1% 100% 7
7 13Q SYNDROME authKW 253074 1% 88% 7
8 RING 20 SYNDROME authKW 185930 1% 75% 6
9 RING CHROMOSOME 13 authKW 185930 1% 75% 6
10 13Q DELETION authKW 185918 2% 38% 12

Web of Science journal categories



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 Genetics & Heredity 23749 73% 0% 542
2 Medical Ethics 2580 4% 0% 27
3 Pediatrics 388 9% 0% 65
4 Clinical Neurology 210 9% 0% 65
5 Obstetrics & Gynecology 109 4% 0% 33
6 Medicine, Research & Experimental 62 5% 0% 34
7 Biotechnology & Applied Microbiology 58 5% 0% 39
8 Education, Special 37 1% 0% 6
9 Rehabilitation 8 1% 0% 8
10 Ophthalmology 7 1% 0% 11

Address terms



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 BIOMED SCI PH D PROGRAM 82637 0% 100% 2
2 AO SAN PAOLO DMCO 41318 0% 100% 1
3 CHBA 41318 0% 100% 1
4 CHILD HLTH GENET 41318 0% 100% 1
5 CLIN SOURISPHENOMIN ICS 41318 0% 100% 1
6 CULT CELULAR CITOGENET 41318 0% 100% 1
7 CYTOGENET SERV CONSTITUT 41318 0% 100% 1
8 DAVIS MED INVEST NEURODEV DISORDERS MIND 41318 0% 100% 1
9 DIP MED CHIRURGIA ODONTOIATRIA 41318 0% 100% 1
10 DIPARTIMENTO PATOL UMAN EREDITARIA 41318 0% 100% 1

Journals



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
1 ANNALES DE GENETIQUE 152474 9% 6% 65
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 35103 9% 1% 70
3 GENETIC COUNSELING 31957 4% 3% 27
4 AMERICAN JOURNAL OF MEDICAL GENETICS 26551 10% 1% 75
5 JOURNAL OF MEDICAL GENETICS 20038 7% 1% 53
6 MOLECULAR CYTOGENETICS 14372 2% 3% 13
7 CLINICAL GENETICS 13618 6% 1% 41
8 EUROPEAN JOURNAL OF MEDICAL GENETICS 13093 3% 2% 19
9 CLINICAL DYSMORPHOLOGY 9464 2% 1% 16
10 HUMAN GENETICS 9116 6% 1% 42

Author Key Words



Rank Term Chi square Shr. of publ. in
class containing
term
Class's shr. of
term's tot. occurrences
#P with
term in
class
LCSH search Wikipedia search
1 MONOSOMY 21 569406 3% 66% 21 Search MONOSOMY+21 Search MONOSOMY+21
2 RING CHROMOSOME 21 476373 2% 82% 14 Search RING+CHROMOSOME+21 Search RING+CHROMOSOME+21
3 RING CHROMOSOME 20 410748 2% 76% 13 Search RING+CHROMOSOME+20 Search RING+CHROMOSOME+20
4 RING CHROMOSOME 336455 4% 26% 31 Search RING+CHROMOSOME Search RING+CHROMOSOME
5 RING CHROMOSOME 15 293818 1% 89% 8 Search RING+CHROMOSOME+15 Search RING+CHROMOSOME+15
6 RING CHROMOSOME 20 SYNDROME 289229 1% 100% 7 Search RING+CHROMOSOME+20+SYNDROME Search RING+CHROMOSOME+20+SYNDROME
7 13Q SYNDROME 253074 1% 88% 7 Search 13Q+SYNDROME Search 13Q+SYNDROME
8 RING 20 SYNDROME 185930 1% 75% 6 Search RING+20+SYNDROME Search RING+20+SYNDROME
9 RING CHROMOSOME 13 185930 1% 75% 6 Search RING+CHROMOSOME+13 Search RING+CHROMOSOME+13
10 13Q DELETION 185918 2% 38% 12 Search 13Q+DELETION Search 13Q+DELETION

Core articles

The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.



Rank Reference # ref.
in cl.
Shr. of ref. in
cl.
Citations
1 DABER, RD , CONLIN, LK , LEONARD, LD , CANEVINI, MP , VIGNOLI, A , HOSAIN, S , BROWN, LW , SPINNER, NB , (2012) RING CHROMOSOME 20.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 55. ISSUE 5. P. 381 -387 32 82% 7
2 SPECCHIO, N , TRIVISANO, M , SERINO, D , CAPPELLETTI, S , CAROTENUTO, A , CLAPS, D , MARRAS, CE , FUSCO, L , ELIA, M , VIGEVANO, F , (2012) EPILEPSY IN RING 14 CHROMOSOME SYNDROME.EPILEPSY & BEHAVIOR. VOL. 25. ISSUE 4. P. 585-592 25 89% 4
3 VIGNOLI, A , BISULLI, F , DARRA, F , MASTRANGELO, M , BARBA, C , GIORDANO, L , TURNER, K , ZAMBRELLI, E , CHIESA, V , BOVA, S , ET AL (2016) EPILEPSY IN RING CHROMOSOME 20 SYNDROME.EPILEPSY RESEARCH. VOL. 128. ISSUE . P. 83 -93 26 79% 0
4 VAN KARNEBEEK, CDM , QUIK, S , SLUIJTER, S , HULSBEEK, MMF , HOOVERS, JMN , HENNEKAM, RCM , (2002) FURTHER DELINEATION OF THE CHROMOSOME 14Q TERMINAL DELETION SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 110. ISSUE 1. P. 65 -72 32 80% 61
5 JESPERSGAARD, C , DAMGAARD, IN , CORNELIUS, N , BACHE, I , KNABE, N , MIRANDA, MJ , TUMER, Z , (2016) PROXIMAL 21Q DELETION AS A RESULT OF A DE NOVO UNBALANCED T(12;21) TRANSLOCATION IN A PATIENT WITH DYSMORPHIC FEATURES, HEPATOMEGALY, THICK MYOCARDIUM AND DELAYED PSYCHOMOTOR DEVELOPMENT.MOLECULAR CYTOGENETICS. VOL. 9. ISSUE . P. - 22 81% 0
6 RADHAKRISHNAN, A , MENON, RN , HARIHARAN, S , RADHAKRISHNAN, K , (2012) THE EVOLVING ELECTROCLINICAL SYNDROME OF "EPILEPSY WITH RING CHROMOSOME 20".SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. VOL. 21. ISSUE 2. P. 92-97 19 90% 7
7 GUILHERME, RS , MELONI, VFA , KIM, CA , PELLEGRINO, R , TAKENO, SS , SPINNER, NB , CONLIN, LK , CHRISTOFOLINI, DM , KULIKOWSKI, LD , MELARAGNO, MI , (2011) MECHANISMS OF RING CHROMOSOME FORMATION, RING INSTABILITY AND CLINICAL CONSEQUENCES.BMC MEDICAL GENETICS. VOL. 12. ISSUE . P. - 20 74% 34
8 GIARDINO, D , VIGNOLI, A , BALLARATI, L , RECALCATI, MP , RUSSO, S , CAMPOREALE, N , MARCHI, M , FINELLI, P , ACCORSI, P , GIORDANO, L , ET AL (2010) GENETIC INVESTIGATIONS ON 8 PATIENTS AFFECTED BY RING 20 CHROMOSOME SYNDROME.BMC MEDICAL GENETICS. VOL. 11. ISSUE . P. - 17 94% 4
9 GUILHERME, RS , MELONI, VDA , SODRE, CP , CHRISTOFOLINI, DM , PELLEGRINO, R , DE MELLO, CB , CONLIN, LK , HUTCHINSON, AL , SPINNER, NB , BRUNONI, D , ET AL (2010) CYTOGENETIC AND MOLECULAR EVALUATION AND 20-YEAR FOLLOW-UP OF A PATIENT WITH RING CHROMOSOME 14.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 152A. ISSUE 11. P. 2865-2869 18 86% 7
10 MATUTE, E , INOZEMTSEVA, O , AGUILAR-LEMARROY, A , JAVE-SUAREZ, LF , DELLA MINA, E , ZUFFARDI, O , RIVERA, H , (2012) COGNITIVE AND BEHAVIORAL PHENOTYPE OF A YOUNG MAN WITH A CHROMOSOME 13 DELETION DEL(13)(Q21.32Q31.1).COGNITIVE AND BEHAVIORAL NEUROLOGY. VOL. 25. ISSUE 3. P. 154-158 17 85% 0

Classes with closest relation at Level 1



Rank Class id link
1 29024 TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY
2 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
3 18550 WOLF HIRSCHHORN SYNDROME//4P DELETION//CHROMOSOME 4
4 33440 TRISOMY 20P//TRISOMY 6P//NEURENSIN 2
5 20269 18Q SYNDROME//CHROMOSOME 18//TETRASOMY 18P
6 24663 TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME
7 14190 TRISOMY 9//TETRASOMY 9P//TRISOMY 9P
8 10418 SUPERNUMERARY MARKER CHROMOSOME//MARKER CHROMOSOME//SMALL SUPERNUMERARY MARKER CHROMOSOME
9 26502 PARACENTRIC INVERSION//PARTIAL TRISOMY 2P//TRISOMY 2P
10 25553 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER

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