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ISCN nomenclature of chromosomal anomalies
Monday 16 June 2008
cytogenetics nomenclature
Deletions
del(8)
del(4)(q12)
del(6)(q23q24)
del(5)(q13q33)
del(3)(q?)
del(7)(p?)
Translocations
t(1;19)(q25;p13)
t(1;14)(q42;p12-13)
t(8;9;11)(q12;p24;p12)
Derivatives
der(22)t(9;22)
Inversions
inv(9)
Insertions
ins(12;?)(q13;?)
Duplications
add(2)(p25)
add(12)(p13)
Isochromosomes
i(8)(q10)
ider
ider(19)(q10)
Trisomies
+8
+15
Monosomies
-8
Books
ISCN 2013 : An International System for Human Cytogenetic Nomenclature (2013). ISBN-10: 3318022535. ISBN-13: 978-3318022537. Amazon
References
ISCN rules for listing chromosomal rearrangements.Curr Protoc Hum Genet. 2001 May;Appendix 4:Appendix 4C. PMID: 18428230
Gonzalez Garcia JR, Meza-Espinoza JP. Use of the International System for Human Cytogenetic Nomenclature (ISCN). Blood. 2006 Dec 1;108(12):3952-3. PMID: 17114573
Shaffer LG, Tommerup N, eds. ISCN 2005: An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: S. Karger; 2005.
An International System for Human Cytogenetic Nomenclature (1985) ISCN 1985. Report of the Standing Committee on Human Cytogenetic Nomenclature. Birth Defects Orig Artic Ser. 1985;21(1):1-117. PMID: 4041569
An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature.Cytogenet Cell Genet. 1978;21(6):309-409. PMID: 747930
An international system for human cytogenetic nomenclature (1978), ISCN (1978). Report of the Standing Committee on Human Cytogenetic Nomenclature.Birth Defects Orig Artic Ser. 1978;14(8):313-404. PMID: 549689
