Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features

Gabarrón, J.; Glover, G.; Jiménez, Ana Luisa; Lamata, E.

doi:10.1111/j.1399-0004.1985.tb00418.x

Cited by 3 publications

(2 citation statements)

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“…Cat eye syndrome (CES) (MIM #115470), also known as Schmid-Fraccaro syndrome, is mainly caused by chromosome 22q11 inversion duplication or chromosome 22 partial tetrasomy ( 1 ) and is observed in 1:150,000 newborns. The major clinical features of CES are the combination of anal atresia, preauricular pits and tags, and/or iris coloboma ( 2 ).…”

Section: Introductionmentioning

confidence: 99%

“…Conclusion: Our findings broadened the symptom spectrum of CES syndrome and laid the foundation for pathogenesis, diagnostic targets, and drug research on the abnormality of eye movement, and were helpful for early diagnosis and intervention of CES. KEYWORDS cat eye syndrome (CES), 1.35 mb tetrasomy, abnormality of eye movement, first report, early diagnosis Background Cat eye syndrome (CES) (MIM #115470), also known as Schmid-Fraccaro syndrome, is mainly caused by chromosome 22q11 inversion duplication or chromosome 22 partial tetrasomy (1) and is observed in 1:150,000 newborns. The major clinical features of CES are the combination of anal atresia, preauricular pits and tags, and/or iris coloboma (2).…”

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confidence: 99%

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A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

Shen

Zheng

et al. 2023

Front. Pediatr.

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BackgroundCat eye syndrome (CES) is a rare disease with a wide spectrum of phenotypic variability that is observed in 1:150,000 newborns. CES is characterized clinically by the combination of iris coloboma, anal atresia, and preauricular tags and/or pits. Many eye malformations have been reported to be associated with CES, such as iris and chorioretinal coloboma. However, an abnormality of eye movement has not been previously reported.Case presentationWe report on a Chinese family carrying a 22q11.1-q11.21 duplication of 1.7Mb tetrasomy (chr22:16,500,000–18,200,000, hg38) in two generations. Based on the proband and her father’s clinical manifestations, including ophthalmological examination, cytogenetic analysis, FISH, CNV-seq, and WES, the diagnosis of CES with an abnormality of eye movement was made.ConclusionOur findings broadened the symptom spectrum of CES syndrome and laid the foundation for pathogenesis, diagnostic targets, and drug research on the abnormality of eye movement, and were helpful for early diagnosis and intervention of CES.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

Shen

Zheng

et al. 2023

Front. Pediatr.

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Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

et al. 1988

Am. J. Med. Genet.

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Two individuals, a boy and girl, with a clinical diagnosis of cat eye syndrome had an extra bisatellited chromosome. In the girl, the diagnosis was made on the basis of coloboma of the right iris, right preauricular pit, and imperforate anus; in the boy, bilateral colobomata of the iris, down-slanting palpebral fissures, right preauricular skin tag, and right preauricular pit. Multiple staining techniques were used to characterize the extra chromosomes. With G-banding the extra chromosome usually appeared monocentric with two major G-positive bands, but with satellites on both ends; with C-banding, two C-band positive regions were evident, indicating that the chromosomes were likely dicentric. Silver staining demonstrated the presence of NORs near each end; Q-banding showed satellites on each end, differing in brightness and size. The chromosomes of the parents were normal; comparisons of Q-band heteromorphisms of the acrocentric chromosomes of the parents with those of the extra chromosome showed in each case one short arm/satellite region of the extra chromosome identical in appearance to one chromosome 22 of the mother and the other end of the extra bisatellited chromosome identical to the short arm/satellite of the mother's second chromosome 22. This extra chromosome, then, is the result of a maternal meiotic error in each case. In situ hybridization studies using the chromosome 22-derived probe p22/34, which identifies locus D22S9, showed 16% of the cells from the female patient to have silver grains on the proximal long arm of the normal chromosome 22 and 14% on the extra chromosome, while 10% of cells from the male had grains on the normal chromosomes 22 and an equal number on the extra chromosome, confirming the chromosome 22 origin of the extra chromosome in these patients.

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Chromosomal anomalies in the etiology of anorectal malformations: A review

Marcelis

Blaauw

Brunner

2011

American J of Med Genetics Pt A

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Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated or in association with other congenital abnormalities. It has a heterogeneous etiology with contribution of both genetic and environmental factors, although the etiological factors remain largely unknown. Several chromosomal abnormalities have been described in patients with an ARM. These chromosomal abnormalities could point to specific genes involved in the development of the anorectal canal and associated structures. This paper reviews the chromosomal abnormalities described in ARM and may act as a starting point to identify chromosomal regions containing putative anorectal development genes.

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Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features

Cited by 3 publications

References 18 publications

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report

Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

Chromosomal anomalies in the etiology of anorectal malformations: A review

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