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chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation.

Deng L1, Peng Y, Liu J, Wen J, Xia Y, Liang D, Wu L.
Birth defects research. Part A, Clinical and molecular teratology.Birth Defects Res A Clin Mol Teratol.2014 Apr;100(4):294-9. doi: 10.1002/bdra.23215. Epub 2014 Mar 26.
BACKGROUND: The partial trisomy 9q syndrome is a well-defined chromosomal disorder with over 40 reported cases in the literature. However, 9q duplications derived from an insertional translocation have rarely been reported.METHODS: Cytogenetic and molecular analyses using G-banding, fluorescence in
PMID 24668944

Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.

Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.
Genetic counseling (Geneva, Switzerland).Genet Couns.2014;25(1):35-9.
Partial trisomy 9q34-qter and partial monosomy 8q24.3-qter are very rare chromosomal abnormalities. Characteristic features of partial trisomy 9q34-qter are hypotonia, developmental delay, mild intellectual disability, dolichocephaly, distinct facial phenotype, long and thin fingers, and cardiac ano
PMID 24783653

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.

Izumi K1, Hahn A, Christ L, Curtis C, Neilson DE.
American journal of medical genetics. Part A.Am J Med Genet A.2011 Jun;155A(6):1384-9. doi: 10.1002/ajmg.a.33959. Epub 2011 May 12.
Partial trisomy 9q involving the duplication of band 9q22 is manifested by a constellation of symptoms including short stature, intellectual disability, microcephaly, pyloric stenosis, facial dysmorphism, and various defects of the heart, distal extremities, eyes, thyroid, and esophagus. In three fa
PMID 21567912

Analysis of genomic alterations on urological malignancies by fluorescence in situ hybridization

A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia