Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation

Kleczkowska, A.; Fryns, J. P.; Buttiens, M.; Bisschop, F. de; Emmery, L; Berghe, Herman Van den

doi:10.1111/j.1399-0004.1986.tb01918.x

Cited by 20 publications

(9 citation statements)

References 10 publications

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“…The cardinal phenotypic features of our case are compared with those aspects in the other cases of i(18q) in Table 1. In Table 2, interesting differences are seen in the degree to which internal organs were affected, as determined by autopsy in the cases of Froster-Iskenius et al (1984), Ieshima et al (1985), Kleczkowska et al (1986), Kriiger et al (1987) and our patient, and by diagnostic procedures in the cases of Rodiere et al (1977) and Bass et al (1979).…”

Section: Discussionmentioning

confidence: 59%

“…There is not much information on this in i(18q). The patients of Kleczkowska et al (1986) and Kriiger et al (1987) both lacked intern. a1 organ malformations and died of respiratory distress syndrome at the age of 2 weeks and of apnoea at 13 months, respectively.…”

Section: Discussionmentioning

confidence: 96%

“…Isochromosome 18q BS a sole abnormality is a rare diagnosis. We are aware of 8 cases, confirmed with banded chromosome analysis, in the literature (Surana et al 1973, Rodiere et al 1977, Bass et al 1979, Froster-Iskenius et al 1984, Ieshima et al 1985, Kleczkowska et al 1986and Kriiger et al 1987 (two cases)) ( Table 1). Other cases, which additionally included trisomy for all or part of 18p, (pseudoisochromosome [t( 18; 18)] and isodicentric 18 (Floore et al 1989), mosaicism for del( 18) (p 1 I)/?i( 18q) or psu iso( 18q) (Sutton & Ridler 1986), isopseudodicentric 18 (Wulfsberget al 1984, Fioretti et al 1982, inclusion of isochromosome (18p) in addition to i(18q) (Larson et al 1978)) have been reported.…”

mentioning

confidence: 83%

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Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report

et al. 1991

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 96%

mentioning

confidence: 83%

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Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report

et al. 1991

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“…The ideal situation for establishing critical region . But pure partial duplication of chromosome 18 is a very rare syndrome 16,18) .…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy of chromosome 18q11.2-q12: A case report

et al. 2009

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= Abstract = Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient. (Korean J Pediatr 2009;52:1171-1174

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“…The literature on adults with Tetrasomy 18p includes ten individuals reported with non-mosaic Tetrasomy 18p: five males and five females, the oldest being 51 years old. All of these individuals are reported as having severe to profound intellectual disability and 4 of whom have seizures (Batista et al 1983;Bugge et al 1996;Callen et al 1990; Kleczkowska et al 1986;Kotzot et al 1996;Swingle et al 2006). There is one report of a woman with 3 % Tetrasomy 18p mosaicism who had a non-mosaic child with Tetrasomy18p (Abeliovich et al 1993).…”

Section: Tetrasomy 18pmentioning

confidence: 99%

Adults with Chromosome 18 Abnormalities

Soileau

Hasi

Sebold

et al. 2014

Journal of Genetic Counseling

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The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.

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Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation

Abstract: In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.

Cited by 20 publications

References 10 publications

Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report

Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report

Partial trisomy of chromosome 18q11.2-q12: A case report

Adults with Chromosome 18 Abnormalities

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