Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ko, Jung Min, Kim, Jun Bum, Pai, Ki Soo, Yun, Jun-No, Park, Sang-Jin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Academy of Medical Sciences 2010
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2995236/
https://ncbi.nlm.nih.gov/pubmed/21165297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.12.1798
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg