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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#