Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction

Eggermann, Thomas; Engels, Hartmut; Apacik, Can; Moskalonek, Barbara; Müller‐Navia, Jutta; Schwanitz, Gesa; Stengel‐Rutkowski, S.

doi:10.1159/000484755

Cited by 17 publications

(12 citation statements)

References 7 publications

(17 reference statements)

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“… * Cote et al [1979]; Batista et al [1983]; Rivera et al [1984]; Kleczkowska et al [1986]; Takeda et al [1989]; Callen et al [1990]; Singer et al [1990]; Park et al [1991]; Abeliovich et al [1993]; Mewar et al [1993]; Esmer et al [1994]; Back et al [1994]; Bugge et al [1996]; Eggermann et al [1997]; Habecker‐Green et al [1998]; Boyle et al [2001]. …”

Section: Discussionmentioning

confidence: 99%

Behavioral management of a long‐term survivor with tetrasomy 18p

Swingle

Ringdahl

Mraz

et al. 2006

American J of Med Genetics Pt A

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We report on a 41-year-old male with dysmorphic features, marked obesity, profound mental retardation, and aggressive behavior who was recently diagnosed with tetrasomy of the short arm of chromosome 18, [47, XY, i(18)(p10)]. His initial diagnosis, based upon chromosomal analysis at 6 years of age in 1969, was "trisomy F syndrome." Approximately 60 cases of tetrasomy 18p are reported in the literature, with little information regarding their long-term behavioral profiles or outcomes from therapy. We describe the behavioral management as well as the medical and genetic evaluation for this older patient with tetrasomy. With improved preventive care and intervention, patients with rare chromosomal abnormalities are living longer and, therefore, provide insight into the natural history of their disorders. Efforts need to be directed toward behavior management, social skills training, and augmentation of communication if the quality of life of these individuals is to continue to improve.

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Section: Discussionmentioning

confidence: 99%

Behavioral management of a long‐term survivor with tetrasomy 18p

Swingle

Ringdahl

Mraz

et al. 2006

American J of Med Genetics Pt A

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“…The molecular mechanism of isochromosome 18p formation has been discussed in several publications [Bugge et al, 1996; Eggermann et al, 1996, 1997; Kotzot et al, 1996]. All cases reported thus far have been monocentric, implying that the isochromosome arises as a result of two independent events: nondisjunction and centromeric misdivision.…”

Section: Introductionmentioning

confidence: 99%

“… Abeliovich et al 1993, Back et al 1994, Bakshi et al 2006, Balicek et al 1976, Balkan et al 2009, Batista et al 1983, Blennow and Nielson 1991, Blennow et al 1995, Boyle et al 2001, Bugge et al 1996, Callen et al 1990, Cote et al 1979, Condron et al 1974, DeBerardinis et al 2005, Eggermann et al 1997, Esmer et al 1994, Fryns et al 1985, 1990, Kleckzkowska et al 1986, Kotzot et al 1996, Mewar et al 1993, Nielsen et al 1978, Ogata et al 1977, Park et al 1991, Ramegowda et al 2006, Rauch et al 1992, Rivera et al 1984, Rocchi et al 1979, Singer et al 1990, Swingle et al 2006, Takeda et al 1989, Tangheroni et al 1973, Taylor et al 1975. …”

Section: Introductionmentioning

confidence: 99%

“…Hence, it is suspected that nondisjunction and misdivision are primarily responsible for the formation of isochromosome 18p. The parental origin of the isochromsome has been reported in five different papers and was found to be maternal in 21 of the 22 cases in which origin could be determined [Bugge et al, 1996; Eggermann et al, 1996, 1997, 1999; Kotzot et al, 1996]. It appears that, in the majority of cases, nondisjunction occurs during maternal meiosis II followed by centromeric misdivision, suggesting that maternal age may play a role in the formation of the isochromosome [Bugge et al, 1996; Kotzot et al, 1996; Eggermann et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

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Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Sebold

Roeder

Zimmerman

et al. 2010

American J of Med Genetics Pt A

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Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.

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“…Despite a greater amount of physician contact, bladder and most other cancers are diagnosed at a more advanced stage as the tumours behave more aggressively than in the general population 12. Also, when stage stratified, transplant patients have worse outcomes 12 13…”

Section: Discussionmentioning

confidence: 99%

Sarcomatoid carcinoma of the bladder after simultaneous kidney-pancreas transplant: a case report and review of the literature

McCrea

Chang²,

Bailley³

et al. 2012

Case Reports

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Carcinosarcoma and sarcomatoid carcinoma of the bladder after organ transplantation is higher in comparison to the general population but overall occurrence is still very uncommon. Due to the decreased immunitary response effects of antirejection drugs, these cancers have aggressive course and respond poorly to treatment. Bladder drained pancreatic transplants are associated with a number of urologic challenges that can delay the diagnosis and the treatment of malignancies of the genito-urinary system. The authors present a case of a rare sarcomatoid carcinoma of the bladder following bladder drained simultaneous kidney and pancreas transplant and discuss its pathogenesis and clinical management.

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Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction

Cited by 17 publications

References 7 publications

Behavioral management of a long‐term survivor with tetrasomy 18p

Behavioral management of a long‐term survivor with tetrasomy 18p

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Sarcomatoid carcinoma of the bladder after simultaneous kidney-pancreas transplant: a case report and review of the literature

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