Fryns syndrome phenotype and trisomy 22

Ladonne, Jean-Marie; Gaillard, Dominique; Carré-Pigeon, F.; Gabriel, Rene Faustino

doi:10.1002/(sici)1096-8628(19960102)61:1<68::aid-ajmg13>3.0.co;2-u

Cited by 30 publications

(15 citation statements)

References 26 publications

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“…There are several reports of CDH occurring in infants found to have multiple anomalies with trisomy 22 [Kim et al, 1992; Ladonne et al, 1996]. CDH has also been observed in patients with “partial trisomy 22q” syndrome due to +der 22 t(11;22) (q23.3;q11.2) inherited from a balanced translocation carrier parent [Schinzel et al, 1981; Lin et al, 1986; Kadir et al, 1997].…”

Section: Clinical Aspects Of Selected “Larger” Chromosome Rearrangemementioning

confidence: 99%

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Pober

2007

American J of Med Genetics Pt C

171

175

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Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.

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Section: Clinical Aspects Of Selected “Larger” Chromosome Rearrangemementioning

confidence: 99%

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Pober

2007

American J of Med Genetics Pt C

171

175

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“…1der (22) t(11;22)(q23;q11) (OMIM 609029) and trisomy 22 Cases of CDH, occurring with additional anomalies, have been reported in patients with trisomy 22 as well as in patients with Ôpartial trisomy 22q' (83)(84)(85)(86)(87). The latter most commonly arises following 3:1 meiotic non-disjunction from a t(11;22) (q23.3; q11.2) balanced translocation carrier parent.…”

Section: Q23 (Omim 610187 Dih3)mentioning

confidence: 99%

Genetic aspects of human congenital diaphragmatic hernia

Pober

2008

Clinical Genetics

105

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Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000-1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are genetically determined and also indicate that CDH is etiologically heterogeneous. The present review will provide a brief summary of diaphragm development and model organism work most relevant to human CDH and will primarily describe important human phenotypes associated with CDH and also provide recommendations for diagnostic evaluation of a fetus or infant with CDH.

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“…Complete non-mosaic trisomy for chromosome 22 is seen commonly in spontaneous abortuses [Hassold et al, 1980]. The first report in a liveborn infant was in 1971 [Hsu et al, 1971], with several well-documented cases since 1980 [Petersen et al, 1987;Kukolich et al, 1989;McPherson and Stetka, 1990;Phillipson et al, 1990;Sundareshan et al, 1990;Feret et al, 1991;Kim et al, 1992;Kobrnyski et al, 1993;Slater et al, 1993;Stratton et al, 1993;Fahmi et al, 1994;Nicholl et al, 1994;Bacino et al, 1995;Ladonne, 1996]. Life expectancy is limited.…”

Section: Introductionmentioning

confidence: 99%

Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes

et al. 1997

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In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism was confirmed in cultured fibroblasts. Repeat cytogenetic analysis of peripheral blood demonstrated a low level of trisomic metaphase cells, which was confirmed by interphase fluorescent in situ hybridization (FISH) analysis. Molecular studies supported maternal disomy in the child's disomic cells. The phenotype of this condition overlaps that of non-mosaic trisomy 22 chromosome mosaicism in general and to some extent the Ullrich-Turner syndrome phenotype. Improved cytogenetic and molecular techniques now allow better delineation of aneuploidy syndromes. Molecular and FISH studies added information about this case (mosaicism and uniparental disomy) not appreciated by routine cytogenetic analysis of lymphocytes. The detection of low-level mosaicism and/or uniparental disomy in such cases may change the clinical classification and our understanding of pathogenesis and recurrence risk of these disorders.

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Fryns syndrome phenotype and trisomy 22

Cited by 30 publications

References 26 publications

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Genetic aspects of human congenital diaphragmatic hernia

Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes

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