Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

2008 ◽  
Vol 146A (14) ◽  
pp. 1871-1874 ◽  
Author(s):  
Valérie Bélien ◽  
Marion Gérard-Blanluet ◽  
Stéphane Serero ◽  
Nathalie Le Dû ◽  
Clarisse Baumann ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Partial Trisomy ◽  
Chromosome 22 ◽  
Cat Eye Syndrome

Cat-eye syndrome with unusual marker chromosome probably not chromosome 22

1984 ◽  
Vol 18 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Warren Rosenfeld ◽  
Ram S. Verma ◽  
Ramesh C. Jhaveri ◽  
John M. Opitz
Keyword(s):  
Marker Chromosome ◽  
Chromosome 22 ◽  
Cat Eye Syndrome

scholarly journals Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Guillaume Jedraszak ◽  
Aline Receveur ◽  
Joris Andrieux ◽  
Michèle Mathieu-Dramard ◽  
Henri Copin ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Genetic Syndrome ◽  
Psychomotor Delay ◽  
Small Supernumerary Marker Chromosome ◽  
Cat Eye Syndrome ◽  
Neurological Phenotype

Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

scholarly journals Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

2010 ◽  
Vol 25 (12) ◽  
pp. 1798 ◽  
Author(s):  
Jung Min Ko ◽  
Jun Bum Kim ◽  
Ki Soo Pai ◽  
Jun-No Yun ◽  
Sang-Jin Park
Keyword(s):  
Marker Chromosome ◽  
Cat Eye Syndrome

Duane's syndrome and 22 marker chromosome: A possible cat-eye syndrome

2006 ◽  
Vol 95 (11) ◽  
pp. 1510-1511 ◽  
Author(s):  
Carmen Gómez-Lado ◽  
Jesús Eirís ◽  
José Manuel Martínez-Yriarte ◽  
Oscar Blanco ◽  
Manuel Castro-Gago
Keyword(s):  
Marker Chromosome ◽  
Cat Eye Syndrome ◽  
Duane’S Syndrome
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