| dc.contributor | C�rdova-Fletes, C., Departamento de Bioqu�mica y Medicina Molecular, Facultad de Medicina, Universidad Aut�noma de Nuevo Le�n, Mexico, Unidad de Biolog�a Molecular, Gen�mica y Secuenciaci�n, Centro de Investigaci�n y Desarrollo en Ciencias de la Salud, Universidad Aut�noma de Nuevo Le�n, Calle Dr. Carlos Canseco s/n, Monterrey, AP 64460, Mexico; Dom�nguez, M.G., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO-IMSS, Mexico, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Mexico; V�zquez-C�rdenas, A., Departamento de Gen�tica, Instituto de Ciencias Biol�gicas, Universidad Aut�noma de Guadalajara, Guadalajara, Mexico; Figuera, L.E., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO-IMSS, Mexico, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Mexico; Neira, V.A., Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Mexico; Rojas-Mart�nez, A., Departamento de Bioqu�mica y Medicina Molecular, Facultad de Medicina, Universidad Aut�noma de Nuevo Le�n, Mexico, Unidad de Biolog�a Molecular, Gen�mica y Secuenciaci�n, Centro de Investigaci�n y Desarrollo en Ciencias de la Salud, Universidad Aut�noma de Nuevo Le�n, Calle Dr. Carlos Canseco s/n, Monterrey, AP 64460, Mexico; Ortiz-L�pez, R., Departamento de Bioqu�mica y Medicina Molecular, Facultad de Medicina, Universidad Aut�noma de Nuevo Le�n, Mexico, Unidad de Biolog�a Molecular, Gen�mica y Secuenciaci�n, Centro de Investigaci�n y Desarrollo en Ciencias de la Salud, Universidad Aut�noma de Nuevo Le�n, Calle Dr. Carlos Canseco s/n, Monterrey, AP 64460, Mexico | |
| dc.description.abstract | Cat-eye syndrome (CES) results from trisomy or tetrasomy of proximal 22q originated by a small supernumerary marker chromosome (sSMC). Two critical regions for the major clinical features of CES (CESCRs) have been suggested; however, CES clinical presentation often does not correlate with the sSMC genetic content. We report here a CES girl without coloboma and carrier of a de novo type I sSMC(22) as determined by G- and C-banding, NOR staining and microarrays. This sSMC included 6 distal genes outside the original CESCR and led to a tetrasomy for 22q11.1-22q11.21. The patient's final karyotype was 47,XX,+psu dic(22)(q11.21).arr 22q11.1q11.21(15,250,000-17,035,860)�4 dn. The amplified region outside of CESCR included some genes that may be related to neurologic, heart and renal abnormalities. Conversely, even though the amplification included the CECR2 gene, a major candidate for eye features, there was no coloboma in the patient. The genetic delineation of the present sSMC further strengthens that the CES clinical presentation does not fit completely with the duplicated genetic content and that CES is actually a genomic disorder. Furthermore, since we observed no mosaicism, we believe that other mechanisms might be behind the variability of CES phenotypes as well, mainly those related with functional interactions among amplified genes. Copyright � 2012 S. Karger AG, Basel. | |
