Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
Carrie Guy1, Xianfu Wang1, Xianglan Lu1
1University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
Molecular Cytogenetics
|January 1, 2016
Summary
Rare central nervous system abnormalities, including holoprosencephaly and Chiari I malformation, are associated with chromosome 22q11.21 deletions and duplications, respectively.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- The 22q11.21 chromosomal region is implicated in various genetic disorders.
- Central nervous system (CNS) abnormalities are infrequently reported in conjunction with 22q11.21 deletions or duplications.
Observation:
- Two patients with 22q11.21 alterations and CNS abnormalities were studied.
- One patient presented with a small deletion and semilobar holoprosencephaly.
- The other patient had a small duplication and Chiari I malformation.
Findings:
- This case series highlights specific CNS malformations linked to distinct 22q11.21 copy-number variations.
- Semilobar holoprosencephaly is associated with 22q11.21 deletion.
- Chiari I malformation is associated with 22q11.21 duplication.
Implications:
- Characterizing the clinical significance of interstitial 22q11.21 duplications and deletions is crucial.
- Further research integrating these phenotypic findings will enhance understanding of 22q11.21 alteration pathogenicity.
- This study contributes to the genotype-phenotype correlation for 22q11.21 copy-number variations.
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