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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

Duplication and deletion on 22q11 in presented cases. a 22q11.21 deletion [arr 22q11.21 (18,894,835-19,010,562)x1]. b 22q11.21 duplication [arr 22q11.21 (18,894,835-19,010,562)x3]
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Fig1: Duplication and deletion on 22q11 in presented cases. a 22q11.21 deletion [arr 22q11.21 (18,894,835-19,010,562)x1]. b 22q11.21 duplication [arr 22q11.21 (18,894,835-19,010,562)x3]

Mentions: Array CGH revealed an approximately 115 kb duplication of chromosome 22q11.21 [arr 22q11.21 (18,894,835–19,010,562) × 3] (Fig. 1). Parental analysis was not performed at the time of this report because the family declined further testing. No additional family members had been tested at the time of this report.Fig. 1


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)

Duplication and deletion on 22q11 in presented cases. a 22q11.21 deletion [arr 22q11.21 (18,894,835-19,010,562)x1]. b 22q11.21 duplication [arr 22q11.21 (18,894,835-19,010,562)x3]
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig1: Duplication and deletion on 22q11 in presented cases. a 22q11.21 deletion [arr 22q11.21 (18,894,835-19,010,562)x1]. b 22q11.21 duplication [arr 22q11.21 (18,894,835-19,010,562)x3]
Mentions: Array CGH revealed an approximately 115 kb duplication of chromosome 22q11.21 [arr 22q11.21 (18,894,835–19,010,562) × 3] (Fig. 1). Parental analysis was not performed at the time of this report because the family declined further testing. No additional family members had been tested at the time of this report.Fig. 1

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