Hemifacial Microsomia in Cat-Eye Syndrome: 22q11.1-q11.21 as Candidate Loci for Facial Symmetry

作者：Quintero Rivera Fabiola; Martinez Agosto Julian A^*

来源：American Journal of Medical Genetics, Part A, 2013, 161(8): 1985-1991.

DOI：10.1002/ajmg.a.35895

• 22q11 tetrasomy
• array CGH
• Cat-Eye syndrome
• hemifacial microsomia
• facial asymmetry
• OAVS
• extra marker chromosome 22
• 22q11
• 1 gain
• 22q11
• 21 gain

Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony.

• 出版日期2013-8