22q122

Digamber S Borgaonkar

22q122

22q12.2

Publication Details

Same entry as in 01q440 (Youings et al, 2003).
Same entry as in 17q211 (Fiegler et al, 2003).
Same entry as in 22p130 (Tonk et al, 2003).
Same entry as in 04q120 (Arai E et al, 1992).
Aviv H, Lieber C, Yenamandra A, Desposito F.: Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. AJMG 70:399-403, 1997. [PubMed: 9182781]
Individual III-9, had Down syndrome, and the family was worked-up.
Proband=46,XY,der(22)t(21;22)(22qter->22q13.3::22q12.2->22q13.3::22p13->22q12.2::21q21.2->21qter)mat.,Mother, grandmother and an aunt:45,XX,t(21;22)(22qter->,22q13.3::22q12.2->22q13.3::22p13->22q12.2::21q21.2->21qter).,A brother of the proband=45,XY,der t(21;22)mat.
The patient was 10 months old with MCA and developmental delays.
FISH studies were informative with regard to the breakponts identification on 22.
Aberration: ST,IP,PI
Chromosomal Aneuploidy: 21q-
Same entry as in 22p130 (Fujimoto et al, 1983).
Same entry as in 11p130 (Moore et al, 1986).

Publication Details

Copyright

Publisher

National Center for Biotechnology Information (US), Bethesda (MD)

NLM Citation

Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-. 22q122.