Cat eye syndrome owing to tetrasomy 22 pter - * ql 1 GOLDER
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چکیده
associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore antenatal diagnosis is an option in future pregnancies.
منابع مشابه
Cat eye syndrome owing to tetrasomy 22 pter - * ql 1
associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore ante...
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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, res...
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Cat eye syndrome (CES) is a rare malformation syndrome with a variable pattern of congenital anomalies. The characteristic features of CES include ocular coloboma, preauricular pits or tags, anal anomalies, and congenital heart and renal malformations. Furthermore, CES may be associated with other craniofacial malformations, skeletal anomalies, and, in some cases, with mental retardation. 2 In ...
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The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confir...
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OBJECTIVE Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of this paper was to describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at our service. METHODS This is a retrospective analysis of a sample of six patients with diagnoses of cat eye syndrome. All of these patients’ karyotypes exhibi...
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