Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome

被引：1

作者：

Spineli-Silva, Samira ^{[1
]}

Monlleo, Isabella L. ^{[2
,3
]}

Felix, Temis M. ^{[4
]}

Gil-da-Silva-Lopes, Vera L. ^{[1
]}

Vieira, Tarsis P. ^{[1
,5
]}

机构：

[1] State Univ Campinas Unicamp, Sch Med Sci, Dept Translat Med, Lab Human Cytogenet & Cytogen, Campinas, SP, Brazil

[2] Fed Univ Alagoas UFAL, Fac Med, Maceio, Alagoas, Brazil

[3] Fed Univ Alagoas UFAL, Univ Hosp, Clin Genet Serv, Maceio, Alagoas, Brazil

[4] Clin Hosp Porto Alegre HCPA, Med Genet Serv, Porto Alegre, RS, Brazil

[5] State Univ Campinas Unicamp, Sch Med Sci, Dept Translat Med, Tessalia Vieira Camargo St 126, BR-13083887 Campinas, SP, Brazil

来源：

CLEFT PALATE CRANIOFACIAL JOURNAL | 2024年 / 61卷 / 09期

关键词：

cat-eye syndrome; craniofacial microsomia; oculoauriculovertebral spectrum; chromosomal microarray analysis; AURICULO-VERTEBRAL SPECTRUM; 22Q11.2; DELETION; REGION; CHILD; MYT1;

D O I：

10.1177/10556656231174435

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region.

引用

页码：1578 / 1585

页数：8

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