Mosaic cat eye syndrome in a child with unilateral iris coloboma

Hernández-Medrano, Cristina; Hidalgo‐Bravo, Alberto; Villanueva‐Mendoza, Cristina; Bautista-Tirado, Teresa; Apam‐Garduño, David

doi:10.1080/13816810.2020.1839918

Cited by 5 publications

(6 citation statements)

References 11 publications

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“…Among these genes, amplification of the genes CECR2 , SLC25A18 and ATP6V1E1 , mapping within the critical region for CES, may be responsible for iris coloboma,congenital heart disease, craniofacial anomalies in patients with CES. In previous studies [ 15 ], patients with cat eye syndrome often had de novo variants, but in the cases we report, the pathogenic variants in the proband were derived from her mothers, but her phenotypes were not as severe as those of her mother. Some cases of CES are not secondary to atopy but involve familial translocations of chromosome 22, in which case the recurrence rate may be higher, making genetic counseling crucial for such families.…”

Section: Discussionmentioning

confidence: 62%

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Wang,

Zhang,

Chai

et al. 2023

Mol Cytogenet

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Purpose This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. Case presentation The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 LogMAR. Peripheral blood chromosome karyotyping reveal a karyotype of 47, XX, + mar. Subsequent analysis of chromosome copy number variation unveiled a 1.5 Mb duplication in the 22q11.1q11.21 region of the proband. The proband's mother,aged 49, displayed small eyes, wide-set eyes, downward slanting eyelids, and congenital heart disease. Chromosome copy number variation analysis also showed a 1.55 Mb duplication in the 22q11.1q11.21 region of chromosome 22 in the proband's mother. Ultimately, both members of this family were diagnosed with cat eye syndrome. Conclusion Cat eye syndrome is a rare genetic disorder that greatly affects patients' lives and requires personalized treatment. This study provides new evidence for a better understanding of the diagnosis of cat eye syndrome and emphasizes the importance of genetic counseling and supervision.

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Section: Discussionmentioning

confidence: 62%

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Wang,

Zhang,

Chai

et al. 2023

Mol Cytogenet

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“…Cat Eye syndrome is due to duplication and inversion of part of chromosome 22 [72]. It is characterized by iris coloboma, anal atresia and ear anomalies in 40% of patients and it can have multiple malformations [72,73]. Serra et al [74] described an infant with cat eye syndrome associated with persistent hypoglycemia and subsequent cholestasis, abnormal midline structures, including aplasia of the anterior pituitary gland, abnormal stalk, and ectopic neurohypophysis with hypopituitarism with cortisol, thyroxine, growth hormone deficits, corpus callosum hypoplasia.…”

Section: Genetics 1-cat Eye Syndrome; 2-deletion Of Chromosome; 3-hao...mentioning

confidence: 99%

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Caffarelli,

Santamaria,

Piro

et al. 2023

Ital J Pediatr

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The last year saw intensive efforts to advance knowledge in pediatric medicine. This review highlights important publications that have been issued in the Italian Journal of Pediatrics in 2022. We have chosen papers in the fields of allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology. Novel valuable developments in epidemiology, pathophysiology, prevention, diagnosis and treatment that can rapidly change the approach to diseases in childhood have been included and discussed.

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“…In 1965, Schachenmann et al identified the genetic basis of CES through a case of a child with polymalformative syndrome with vertical coloboma and other congenital anomalies, genetic analysis noted the presence of a small supernumerary bisatellited marker chromosome (sSMC) derived from chromosome 22. The ultimate result is a trisomy or partial tetrasomy of chromosome 22, specifically of the region 22pter to 22q11.1 [3,4]. The proximal region of the (q) arm of chromosome 22 includes genes responsible for typical ophthalmologic findings [4].…”

Section: Introductionmentioning

confidence: 99%

Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

Ait Si Ali,

Alahyane,

Rafi

2024

Int J Sci Healthcare Res

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Introduction: Cat-eye syndrome is a rare genetic disease with extremely diverse phenotypes. Its most common manifestations include ocular coloboma, anal atresia, preauricular skin tags and pits. Case report: We report the third case of Cat-eye syndrome associated to Mullerian agenesis in a 28 years-old female, to highlight the possibility of a link between partial trisomy or tetrasomy of chromosome 22 (specifically of the region 22q11) and Müllerian agenesis. Discussion and Conclusion: In patients with CES, the short arm (p) and a small part of the long arm (q) of chromosome 22 are present three or four (trisomy or tetrasomy) times rather than twice in every cell of the organism. Schinzel et al, described in 1981 the first case of Cat eye syndrome associated to Mullerian agenesis in their series of 11 patients with CES. The second case of Müllerian agenesis in a patient with CES was reported by AlSubaihin et al. This rare association is suggesting that there may be genes in or near the 22q11 CES critical region that are important for normal mullerian development. Keywords: Cat-eye syndrome – Mullerian agenesis – Malformations – Genetic analysis

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Mosaic cat eye syndrome in a child with unilateral iris coloboma

Cited by 5 publications

References 11 publications

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

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