Quinacrine fluorescence and Giemsa banding in trisomy 22

Punnett, Hope H.; Kistenmacher, Mildred L.; Toro-Sola, Maria A.; Kohn, Gertrude

doi:10.1007/bf00306562

Cited by 38 publications

(20 citation statements)

References 8 publications

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“…In the past these malformed infants have been described as having "the trisomy 22 syndrome," "partial trisomy 22," "partial trisomy llq," and, in some cases, the cateye syndrome. Several of the infants described in "The Clinical Atlas of Human Chromosomes" by de Grouchy and Turleau [1979] as trisomy 22 or partial trisomy llq, in fact, have since been shown to have the der(22) from a t(11;22) carrier parent [Punnett et al, 1973;Punnett and Kistenmacher, 1980;Zackai and Emanuel, 19801.…”

Section: Discussionmentioning

confidence: 97%

Tandem duplication of proximal 22q: A cause of cat‐eye syndrome

et al. 1985

Am. J. Med. Genet.

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A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1----q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. Blood marker results and the levels of galactosidase-2, galactosidase-B and arylsulfatase-A, which are known to be coded on 22q, are normal.

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Section: Discussionmentioning

confidence: 97%

Tandem duplication of proximal 22q: A cause of cat‐eye syndrome

et al. 1985

Am. J. Med. Genet.

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“…An early study of this disorder conducted at St Christopher's Hospital for Children in Philadelphia suggested a frequency of 1 in every 30 000-50 000 births based on the cases treated at this institution between 1964 and 1972. 16 This frequency may have since decreased due to advances and more widespread use of prenatal diagnosis. Due to the lack of largescale chromosomal studies on healthy individuals, there is no information on the prevalence of t(11;22) balanced translocation carriers.…”

Section: Prevalence Of Emanuel Syndrome From Surveillance Datamentioning

confidence: 99%

Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result

Ohye

Inagaki

Kato

et al. 2014

Pediatrics International

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Constitutional t(11;22)(q23;q11) is the most frequent recurrent non-Robertsonian translocation in humans. Balanced carriers of t(11;22) usually manifest no clinical symptoms, and are often identified after the birth of offspring with an unbalanced form of this translocation, known as Emanuel syndrome. To determine the prevalence of the disorder, we sent surveillance questionnaires to 735 core hospitals in Japan. The observed number of Emanuel syndrome cases was 36 and that of t(11;22) balanced translocation carriers, 40. On the basis of the de novo t(11;22) translocation frequency in sperm from healthy men, we calculated the frequency of the translocations in the general population. Accordingly, the prevalence of Emanuel syndrome was estimated at 1 in 110 000. Based on this calculation, the estimated number of Emanuel syndrome cases in Japan is 1063 and of t(11;22) balanced translocation carriers, 16 604, which are much higher than the numbers calculated from the questionnaire responses. It is possible that this discordance is partly attributable to a lack of disease identification. Further efforts should be made to increase the awareness of Emanuel syndrome to ensure a better quality of life for affected patients and their families.

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“…22. Though the trisomy 22 itself is relatively rare and the phenotype of the affected individuals are rather variable, there are a considerable similarity in the description of trisomy 22 syndrome as a clinical entity (Uchida et al 1968;Nielson et al 1969;Walbaum et al 1970;Hsu et al 1971;Goodman et al 1971;Gustavson et al 1972;Bass et al 1973;Punnett et al 1973;Buffoni et al 1974 ;Penchaszadeh and Coco 1975;Begleiter et al 1976 ;Emanuel et al 1976 ;Mangold et al 1976 ;Zellweger et al 1976) . The clinical findings common to these individuals include growth retardation ; mental retardation; microcephaly ; micrognathia ; preauricular skin tags or sinuses ; palate anomaly (high arched or cleft) ; low-set [Vol.…”

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confidence: 99%