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Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.

Guy C, Wang X, Lu X, Lu J, Li S - Mol Cytogenet (2015)

Bottom Line: Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

View Article: PubMed Central - PubMed

Affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.

ABSTRACT

Background: Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.

Case presentation: We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.

Conclusions: This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

No MeSH data available.


Related in: MedlinePlus

Location of the duplication seen in Case 1 and deletion seen in Case 2. Figure adapted from Shaikh et al. [18] and http://genome.ucsc.edu [19]
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Fig2: Location of the duplication seen in Case 1 and deletion seen in Case 2. Figure adapted from Shaikh et al. [18] and http://genome.ucsc.edu [19]

Mentions: We present two cases of 22q11.21 alterations with duplication in one and deletion in the second, and of similar, small size and location (Fig. 2), both with central nervous system abnormalities rarely reported in cases of 22q11 alterations. The first patient has a small (115 kb) duplication of 22q11 [arr 22q11.21 (18,894,835–19,010,562) × 3], attention deficit-hyperactivity disorder, autism spectrum disorder and sensory processing disorder, and developmental language disorder, and was found to have Chiari I malformation on MRI. While Chiari I malformation has been previously reported in 22q11 deletion syndrome [11], this is the first report, to our knowledge, of a patient with 22q11 duplication and Chiari I malformation. In addition, it is the only case identified to have duplication of this region without additional alterations.Fig. 2


Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.

Guy C, Wang X, Lu X, Lu J, Li S - Mol Cytogenet (2015)

Location of the duplication seen in Case 1 and deletion seen in Case 2. Figure adapted from Shaikh et al. [18] and http://genome.ucsc.edu [19]
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4696335&req=5

Fig2: Location of the duplication seen in Case 1 and deletion seen in Case 2. Figure adapted from Shaikh et al. [18] and http://genome.ucsc.edu [19]
Mentions: We present two cases of 22q11.21 alterations with duplication in one and deletion in the second, and of similar, small size and location (Fig. 2), both with central nervous system abnormalities rarely reported in cases of 22q11 alterations. The first patient has a small (115 kb) duplication of 22q11 [arr 22q11.21 (18,894,835–19,010,562) × 3], attention deficit-hyperactivity disorder, autism spectrum disorder and sensory processing disorder, and developmental language disorder, and was found to have Chiari I malformation on MRI. While Chiari I malformation has been previously reported in 22q11 deletion syndrome [11], this is the first report, to our knowledge, of a patient with 22q11 duplication and Chiari I malformation. In addition, it is the only case identified to have duplication of this region without additional alterations.Fig. 2

Bottom Line: Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

View Article: PubMed Central - PubMed

Affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.

ABSTRACT

Background: Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.

Case presentation: We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.

Conclusions: This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

No MeSH data available.


Related in: MedlinePlus