{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:27:36Z","timestamp":1787657256454,"version":"build-2736575974"},"reference-count":20,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,2]]},"abstract":"<jats:p>A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.<\/jats:p>","DOI":"10.1136\/jmg.21.1.60","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"60-63","source":"Crossref","is-referenced-by-count":16,"title":["Cat eye syndrome owing to tetrasomy 22pter leads to q11."],"prefix":"10.1136","volume":"21","author":[{"given":"G N","family":"Wilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D L","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Schau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1984,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1399-0004.1979.tb00846.x","article-title":"Counselling problems when twins are discovered at genetic amniocentesis","volume":"16","author":"Hunter, A.G.W.; Cox, D.N.M.","year":"1979","unstructured":"Hunter AGW, Cox DNM. Counselling problems when twins are discovered at genetic amniocentesis. Clin Genet 1979;16:34-42.","journal-title":"Clin Genet"},{"key":"ref_2","first-page":"586","article-title":"Diagnosis of fetal trisomy 21 in first trimester","volume":"i:","author":"Brambati, B.; Simoni, G.","year":"1983","unstructured":"Brambati B, Simoni G. Diagnosis of fetal trisomy 21 in first trimester. Lancet 1983;i:586.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/BF00274761","article-title":"Efficient direct chromosome analysis and enzyme determinations from chorionic villi samples in the first trimester of pregnancy","volume":"63","author":"Simoni, G.; Brambati, B.; Danesino, C.","year":"1983","unstructured":"Simoni G, Brambati B, Danesino C, et al. Efficient direct chromosome analysis and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983;63:349-57.","journal-title":"Hum Genet"},{"key":"ref_4","first-page":"1414","article-title":"First trimester fetal diagnosis for haemoglobinopathies: three cases","volume":"ii:","author":"Old, J.M.; Ward, R.H.T.; Karagozlu, F.; Petrou, M.; Modell, B.; Weatherall, D.J.","year":"1982","unstructured":"Old JM, Ward RHT, Karagozlu F, Petrou M, Modell B, Weatherall DJ. First trimester fetal diagnosis for haemoglobinopathies: three cases. Lancet 1982;ii:1414-6.","journal-title":"Lancet"},{"key":"ref_5","first-page":"286","article-title":"Prenatal Tay-Sachs diagnosis by chorionic villi sampling","volume":"ii:","author":"Pergament, E.; Ginsberg, N.; Verlinsky, Y.; Cadkin, A.; Chu, L.; Trnka, L.","year":"1983","unstructured":"Pergament E, Ginsberg N, Verlinsky Y, Cadkin A, Chu L, Trnka L. Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet 1983;ii:286.","journal-title":"Lancet"},{"key":"ref_6","first-page":"286","article-title":"Prenatal Tay-Sachs diagnosis by chorionic villi sampling","volume":"ii:","author":"Grebner, E.E.; Wapner, R.J.; Barr, M.A.; Jackson, L.G.","year":"1983","unstructured":"Grebner EE, Wapner RJ, Barr MA, Jackson LG. Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet 1983;ii:286-7.","journal-title":"Lancet"},{"key":"ref_7","article-title":"Since the original description of four patients with a small extra chromosome,' the delineation of the cat eye syndrome2 has been hindered by both phenotypic and cytogenetic variability. Certain component defects of the cat eye syndrome, such as Received for publication I","year":"1983","unstructured":"Since the original description of four patients with a small extra chromosome,' the delineation of the cat eye syndrome2 has been hindered by both phenotypic and cytogenetic variability. Certain component defects of the cat eye syndrome, such as Received for publication I June 1983. Accepted for publication 9 June 1983."},{"key":"ref_8","article-title":"A Giemsa-trypsin banded karyotype using standard methods demonstrated an extra bisatellited chromosome fragment in 25 out of 25 cells (fig 2a). The presence of NOR material at both ends was demonstrated (fig 2b) by silver staining8 and satellite association with other acrocentric chromosomes","unstructured":"A Giemsa-trypsin banded karyotype using standard methods demonstrated an extra bisatellited chromosome fragment in 25 out of 25 cells (fig 2a). The presence of NOR material at both ends was demonstrated (fig 2b) by silver staining8 and satellite association with other acrocentric chromosomes."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0140-6736(65)92415-3","article-title":"Chromosomes in coloboma and anal atresia","volume":"ii:","author":"Schachenmann, G.; Schmid, W.; Fraccaro, M.","year":"1965","unstructured":"Schachenmann G, Schmid W, Fraccaro M, et al. Chromosomes in coloboma and anal atresia. Lancet 1965;ii:290.","journal-title":"Lancet"},{"key":"ref_10","first-page":"79","article-title":"Syndromal association of imperforate anus: the cat eye syndrome","volume":"XIII:","author":"Gerald, P.S.; Davis, C.; Say, B.; Wilkins, J.","year":"1972","unstructured":"Gerald PS, Davis C, Say B, Wilkins J. Syndromal association of imperforate anus: the cat eye syndrome. Birth Defects 1972;XIII:79-84.","journal-title":"Birth Defects"},{"key":"ref_11","first-page":"148","article-title":"The 'cat eye syndrome': dicentric small marker chromosome probably derived from a No 22 (tetrasomy 22pter-*ql 1) associated with a characteristic phenotype","volume":"57","author":"Schinzel, A.; Schmid, W.; Fracarro, M.","year":"1981","unstructured":"Schinzel A, Schmid W, Fracarro M, et al. The 'cat eye syndrome': dicentric small marker chromosome probably derived from a No 22 (tetrasomy 22pter-*ql 1) associated with a characteristic phenotype. Hum Genet 1981;57: 148-58.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmg.14.4.288","article-title":"Trisomy 22 with 'cat eye'","volume":"14","author":"Cervenka, J.; Hansen, C.A.; Franciosi, R.A.; Gorlin, R.J.","year":"1977","unstructured":"Cervenka J, Hansen CA, Franciosi RA, Gorlin RJ. Trisomy 22 with 'cat eye' anomaly. J Med Genet 1977; 14:288-90.","journal-title":"anomaly. J Med Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/ajmg.1320080313","article-title":"Duplication of distal Ilq and 22p-occurrence in two unrelated families","volume":"8","author":"Najafzadeh, T.M.; Dumars, K.W.","year":"1981","unstructured":"Najafzadeh TM, Dumars KW. Duplication of distal Ilq and 22p-occurrence in two unrelated families. Anm J Med Genet 1981;8:341-7.","journal-title":"Anm J Med Genet"},{"key":"ref_14","first-page":"294","article-title":"The origin and behavior of two isodicentric bisatellited chromosomes","volume":"29","author":"DL, Van Dyke; L, Weiss; M, Logan; GS, Pai","year":"1977","unstructured":"Van Dyke DL, Weiss L, Logan M, Pai GS. The origin and behavior of two isodicentric bisatellited chromosomes. Am J Hum Genet 1977;29:294-300.","journal-title":"Am J Hum Genet"},{"key":"ref_15","first-page":"108","article-title":"The aetiology of the cat eye syndrome reconsidered","volume":"18","author":"Guanti, G.","year":"1981","unstructured":"Guanti G. The aetiology of the cat eye syndrome reconsidered.JMedGenet 1981;18:108-18.","journal-title":"JMedGenet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/BF00329389","article-title":"Visualization of nucleolar organizer regions in mammalian chromosomes using silver-staining","volume":"53","author":"Goodpasture, C.; Bloom, S.E.","year":"1975","unstructured":"Goodpasture C, Bloom SE. Visualization of nucleolar organizer regions in mammalian chromosomes using silver-staining. Chromosoina 1975;53:37-50.","journal-title":"Chromosoina"},{"key":"ref_17","first-page":"114","article-title":"Silver staining of the supernumerary chromosome in the cat-eye syndrome","volume":"23","author":"Petit, P.; Godart, S.; Fryns, J.P.","year":"1980","unstructured":"Petit P, Godart S, Fryns JP. Silver staining of the supernumerary chromosome in the cat-eye syndrome. Ann Genet (Paris) 1980;23:114-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_18","article-title":"SUMMARY A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69, XXX. The parents had identical HLA alleles Al, A2, and Bw2I. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed","unstructured":"SUMMARY A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles Al, A2, and Bw2I. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed."},{"key":"ref_19","article-title":"Triploidy is a common chromosomal abnormality, occurring in about 20% of human conceptuses. As a general rule these abnormal embryos are spontaneously aborted early in gestation.' The present article reports a case of triploidy which is unusual for the following reasons: the survival of the fetus to 22 weeks; the rare association of triploidy with holoprosencephaly; and the discovery of identical HLA -A and -B alleles in the parents","unstructured":"Triploidy is a common chromosomal abnormality, occurring in about 20% of human conceptuses. As a general rule these abnormal embryos are spontaneously aborted early in gestation.' The present article reports a case of triploidy which is unusual for the following reasons: the survival of the fetus to 22 weeks; the rare association of triploidy with holoprosencephaly; and the discovery of identical HLA -A and -B alleles in the parents."},{"key":"ref_20","article-title":"The second pregnancy proceeded normally until Received for publication","volume-title":"Accepted for publication","year":"1983","unstructured":"The second pregnancy proceeded normally until Received for publication 11 May 1983. Accepted for publication 16 May 1983."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.1.60","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:13:00Z","timestamp":1760764380000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.1.60"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,2]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1984,2,1]]},"published-print":{"date-parts":[[1984,2]]}},"alternative-id":["10.1136\/jmg.21.1.60"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.1.60","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,2]]}}}