Cytogenetic Investigation of Cat-Eye Syndrome

Weleber, Richard G.; Walknowska, Janina; Peakman, David

doi:10.1016/0002-9394(77)90438-x

Cited by 16 publications

(4 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These abnormal events appear to occur preferentially in the mothers [Maraschio et al,198 1). Also consistent with similar origins of the abnormal bisatellited chromosomes is the fact that there appears to be an increased parental age effect in both [Wisniewski et al, 1979;Maraschio et al, 1981;Schinzel et al, 19811. Deletions of the same euchromatic regions of chromosome 15 and 22 that are extra in patients with a bisatellited 15 or 22 are also known: Prader-Willi syndrome due to deletion of proximal 15q [Ledbetter et al,198 11 and DiGeorge anomaly due to deletion of proximal 22q [de la Chapelle et al, 198 1;Lammer and Opitz, 19861. Similar deletions and tetrasomies of other acrocentric chromosomes have not been described, suggesting that the structure of these regions of chromosome 15 and 22 may be different from those of the other acrocentric chromosomes.…”

Section: Discussionmentioning

confidence: 63%

“…Buhler et al [1972] first suggested that the extra chromosome in cat eye syndrome is derived from chromosome 22 on the basis of typical clinical findings in two individuals who were the unbalanced products of a familial translocation involving chromosome 22, which was cytologically identified by using quinacrine fluorescence. With the use of several banding techniques the extra chromosome was identified as a bisatellited dicentric chromosome, most likely of chromosome 22 origin [Schinzel et al, 19811, or of chromosome 22/D or G translocation origin [Weleber et al, 1977;Toomey et al, 19771. However, these reports expressed caution regarding this interpretation, and Guanti [ 198 13 argued for a chromosome 13 origin. The chromosome 22 derivation of the marker was recently confirmed by the work of McDermid et al [1986], who used a chromosome 224erived single sequence probe, p22/ 34, which identifies locus D22S9, which they showed annealed to 22qll by in situ hybridization studies.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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.

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 63%

Section: Introductionmentioning

confidence: 99%

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.

View full text Add to dashboard Cite

show abstract

“…Cytogenetically, the cat eye syndrome was found to be due to a small additional G-like chromosome [Schachenmann et al, 19651, sometimes familiarity transmitted [Schachenmann et al, 1965;Buhler et al, 1972;Petersen, 1973;Weleber et al, 1977;Schinzel et al, 1981;Ing et al, 1987;Luleci et al, 19891, frequently identified as a bisatellited marker [Schinzel et al, 19811 which is derived from chromosome 22 McDermid et al, 1986;Duncan et al, 1988;Liehr et al, 19921. However, a tandem duplication of 22qll.l-q11.2 was found in one affected individual who lacked the supernumerary chromosome [Reiss et al, 19851.…”

Section: Introductionmentioning

confidence: 99%

Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome

et al. 1994

View full text Add to dashboard Cite

We have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and non-isotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chromosome 22 and it did not present the same morphology in all the cells. At least 5 distinct types of the marker chromosome were detected and some of them were probably derived from each other (dynamic mosaicism). The proposita had an MCA pattern consistent with mild cat eye syndrome, while her sister and her mother had some of the manifestations described in this syndrome. A specific correlation could be established between phenotype and karyotype.

show abstract

“…5 Several forms of ocular motility disorders are known to be associated with CES, but to our knowledge, there have only been a few cases reported specifically describing Duane syndrome (DS). 1,6,7 Duane retraction syndrome has been subjected to several classifications, but its most characteristic presentation is the absence of abduction with some degree of restriction of adduction associated with globe retraction, with narrowing of the palpebral fissure on attempted adduction. It most commonly affects the left eye and several studies confirm a preponderance towards females.…”

Section: Commentmentioning

confidence: 99%