Class information for:
Level 1: TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
24663 305 18.1 72%



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
24663 1                   TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME 305

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 TRISOMY 1Q authKW 1112810 6% 65% 17
2 PARTIAL TRISOMY 1Q authKW 807592 4% 73% 11
3 3P SYNDROME authKW 613205 2% 88% 7
4 DUP1Q authKW 500577 2% 100% 5
5 3P DELETION SYNDROME authKW 445964 2% 64% 7
6 INTERSTITIAL 1Q DELETION authKW 400462 1% 100% 4
7 ZNF238 authKW 400458 2% 67% 6
8 PARTIAL TRISOMY 17Q authKW 300346 1% 100% 3
9 TRISOMY 1Q42 QTER authKW 300346 1% 100% 3
10 PARTIAL MONOSOMY 3P authKW 266972 1% 67% 4

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 13324 85% 0% 260
2 Medical Ethics 1688 5% 0% 14
3 Obstetrics & Gynecology 77 6% 0% 17
4 Pediatrics 71 6% 0% 19
5 Medicine, Research & Experimental 43 6% 0% 17
6 Biotechnology & Applied Microbiology 16 5% 0% 14
7 Otorhinolaryngology 5 1% 0% 4
8 Cell Biology 0 3% 0% 9
9 Audiology & Speech-Language Pathology 0 0% 0% 1
10 Ophthalmology 0 1% 0% 3

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 AMBULATORIO AUXOL SINDROMOL MALATTIE RARE 100115 0% 100% 1
2 CHILD ADOLESCENT MED PEDIAT NEUROL 100115 0% 100% 1
3 CHILDRENS INTERDISCIPLINARY NEUROPSYCHOL 100115 0% 100% 1
4 CLIN CYTOGENETICIST DIAGNOST GENOME ANAL 100115 0% 100% 1
5 CLIN EXPT MEDLMC 100115 0% 100% 1
6 CYTOGENET EUROGENET 100115 0% 100% 1
7 CYTOGENET IMMUNOPATHOL 100115 0% 100% 1
8 DIPARTIMENTO SCI MED CHIRUG DIMEC 100115 0% 100% 1
9 DIRECC REHABIL 100115 0% 100% 1
10 F CLARKE CLIN GENET UNIT 100115 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 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 54539 18% 1% 56
2 ANNALES DE GENETIQUE 50361 8% 2% 24
3 AMERICAN JOURNAL OF MEDICAL GENETICS 27516 16% 1% 49
4 GENETIC COUNSELING 20825 5% 1% 14
5 JOURNAL OF MEDICAL GENETICS 15578 10% 1% 30
6 EUROPEAN JOURNAL OF MEDICAL GENETICS 8793 3% 1% 10
7 CLINICAL DYSMORPHOLOGY 5736 3% 1% 8
8 CLINICAL GENETICS 5673 6% 0% 17
9 MOLECULAR CYTOGENETICS 5151 2% 1% 5
10 CYTOGENETIC AND GENOME RESEARCH 2942 3% 0% 8

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 TRISOMY 1Q 1112810 6% 65% 17 Search TRISOMY+1Q Search TRISOMY+1Q
2 PARTIAL TRISOMY 1Q 807592 4% 73% 11 Search PARTIAL+TRISOMY+1Q Search PARTIAL+TRISOMY+1Q
3 3P SYNDROME 613205 2% 88% 7 Search 3P+SYNDROME Search 3P+SYNDROME
4 DUP1Q 500577 2% 100% 5 Search DUP1Q Search DUP1Q
5 3P DELETION SYNDROME 445964 2% 64% 7 Search 3P+DELETION+SYNDROME Search 3P+DELETION+SYNDROME
6 INTERSTITIAL 1Q DELETION 400462 1% 100% 4 Search INTERSTITIAL+1Q+DELETION Search INTERSTITIAL+1Q+DELETION
7 ZNF238 400458 2% 67% 6 Search ZNF238 Search ZNF238
8 PARTIAL TRISOMY 17Q 300346 1% 100% 3 Search PARTIAL+TRISOMY+17Q Search PARTIAL+TRISOMY+17Q
9 TRISOMY 1Q42 QTER 300346 1% 100% 3 Search TRISOMY+1Q42+QTER Search TRISOMY+1Q42+QTER
10 PARTIAL MONOSOMY 3P 266972 1% 67% 4 Search PARTIAL+MONOSOMY+3P Search PARTIAL+MONOSOMY+3P

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 CERVANTES, A , GARCIA-DELGADO, C , FERNANDEZ-RAMIREZ, F , GALAZ-MONTOYA, C , MORALES-JIMENEZ, AB , NIETO-MARTINEZ, K , GOMEZ-LAGUNA, L , VILLA-MORALES, J , QUINTANA-PALMA, M , BERUMEN, J , ET AL (2014) TRISOMY 1Q41-QTER AND MONOSOMY 3P26.3-PTER IN A FAMILY WITH A TRANSLOCATION (1;3): FURTHER DELINEATION OF THE SYNDROMES.BMC MEDICAL GENOMICS. VOL. 7. ISSUE . P. - 29 91% 1
2 PRONTERA, P , CLERICI, G , BERNARDINI, L , SCHIPPA, M , CAPALBO, A , MANES, I , GIUFFRIDA, MG , BARBIERI, MG , ARDISIA, C , DONTI, E , (2011) PRENATAL DIAGNOSIS AND MOLECULAR CHARACTERIZATION OF AN INTERSTITIAL 1Q24.3-31.3 DELETION: CASE REPORT AND REVIEW.GENETIC COUNSELING. VOL. 22. ISSUE 1. P. 41 -48 21 95% 5
3 CHATRON, N , HADDAD, V , ANDRIEUX, J , DESIR, J , BOUTE, O , DIEUX, A , BAUMANN, C , DRUNAT, S , GERARD, M , BONNET, C , ET AL (2015) REFINEMENT OF GENOTYPE-PHENOTYPE CORRELATION IN 18 PATIENTS CARRYING A 1Q24Q25 DELETION.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 5. P. 1008 -1017 21 68% 3
4 MILANI, D , BEDESCHI, MF , IASCONE, M , CHIARELLI, G , CERUTTI, M , MENNI, F , (2012) DE NOVO DELETION OF 1Q31.1-Q32.1 IN A PATIENT WITH DEVELOPMENTAL DELAY AND BEHAVIORAL DISORDERS.CYTOGENETIC AND GENOME RESEARCH. VOL. 136. ISSUE 3. P. 167 -170 15 100% 1
5 KOZMA, C , SLAVOTINEK, AM , MECK, JM , (2004) SEOREGATION OF A T(1;3) TRANSLOCATION IN MULTIPLE AFFECTED FAMILY MEMBERS WITH BOTH TYPES OF ADJACENT-1 SEGREGANTS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 124A. ISSUE 2. P. 118-128 19 90% 9
6 FERNANDEZ, TV , GARCIA-GONZALEZ, IJ , MASON, CE , HERNANDEZ-ZARAGOZA, G , LEDEZMA-RODRIGUEZ, VC , ANGUIANO-ALVAREZ, VM , E'VEGA, R , GUTIERREZ-ANGULO, M , MAYA, ML , GARCIA-BEJARANO, HE , ET AL (2008) MOLECULAR CHARACTERIZATION OF A PATIENT WITH 3P DELETION SYNDROME AND A REVIEW OF THE LITERATURE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 146A. ISSUE 21. P. 2746-2752 22 67% 25
7 CHAABOUNI, M , MARTINOVIC, J , SANLAVILLE, D , ATTIE-BITTACH, T , CAILLAT, S , TURLEAU, C , VEKEMANS, M , MORICHON, N , (2006) PRENATAL DIAGNOSIS AND MOLECULAR CHARACTERIZATION OF AN INTERSTITIAL 1Q24.2Q25.2 DELETION.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 49. ISSUE 6. P. 487-493 17 94% 11
8 SHUIB, S , MCMULLAN, D , RATTENBERRY, E , BARBER, RM , RAHMAN, F , ZATYKA, M , CHAPMAN, C , MACDONALD, F , LATIF, F , DAVISON, V , ET AL (2009) MICROARRAY BASED ANALYSIS OF 3P25-P26 DELETIONS (3P-SYNDROME).AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 149A. ISSUE 10. P. 2099-2105 20 65% 45
9 SENSES, DA , SILAN, F , UZUN, H , ZAFER, C , UCAR-CAVUSOGLU, E , KOCABAY, K , (2007) PARTIAL TRISOMY 1(Q25QTER) DUE TO A DE NOVO UNBALANCED 1;19 TRANSLOCATION IN A NEONATE.GENETIC COUNSELING. VOL. 18. ISSUE 4. P. 409-416 17 85% 0
10 LUKUSA, T , FRYNS, JP , (2010) PURE DE NOVO 17Q25.3 MICRO DUPLICATION CHARACTERIZED BY MICRO ARRAY CGH IN A DYSMORPHIC INFANT WITH GROWTH RETARDATION, DEVELOPMENTAL DELAY AND DISTAL ARTHROGRYPOSIS.GENETIC COUNSELING. VOL. 21. ISSUE 1. P. 25 -34 15 83% 9

Classes with closest relation at Level 1



Rank Class id link
1 26502 PARACENTRIC INVERSION//PARTIAL TRISOMY 2P//TRISOMY 2P
2 33440 TRISOMY 20P//TRISOMY 6P//NEURENSIN 2
3 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
4 14190 TRISOMY 9//TETRASOMY 9P//TRISOMY 9P
5 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
6 25553 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER
7 36588 PELGER HUET ANOMALY//PELGER HUET//PSEUDO PELGER HUET ANOMALY
8 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
9 14963 MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20
10 20601 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS

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