First familial case of ring chromosome 18 and monosomy 18 mosaicism

Yardin, Catherine; Esclaire, Françoise; Terro, Faraj; Baclet, Marie-Claire; Barthe, D; Laroche, Cécile

doi:10.1002/ajmg.10059

Cited by 13 publications

(5 citation statements)

References 10 publications

(12 reference statements)

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“…The mosaic abnormality can be explained by a mitotic non disjunction associated with ring instability. Some arguments for post zygotic origin of the anomaly was the detection of a line with monosomy in the case of small chromosomes (ring/monosomy mosaicism) and the presence of a diploid normal line in the case of chromosomes rich in euchromatin (ring/normal line mosaicism) [3,4,12]. …”

Section: Introductionmentioning

confidence: 99%

Ring Autosomes: Some Unexpected Findings

Caba

Rusu²,

Plaiasu

et al. 2012

Balkan Journal of Medical Genetics

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Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences. Our study reflects the experience of three Romanian cytogenetic laboratories in the field of ring chromosomes. We present six cases with ring chromosomes involving chromosomes 5, 13, 18, and 21. All ring chromosomes were identified after birth in children with plurimalformative syndromes. The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring’s instability. In case of ring chromosome 5, we report a possible association with oculo-auriculo-vertebral spectrum.

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Section: Introductionmentioning

confidence: 99%

Ring Autosomes: Some Unexpected Findings

Caba

Rusu²,

Plaiasu

et al. 2012

Balkan Journal of Medical Genetics

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“…Zahed et al (2004) reported another case of an adult male with ring chromosome 18q and jumping translocation 18p who had partial primary hypogonadism as the sole phenotypic abnormality. The primary hypogonadism in our patient, a unique feature that has not been previously associated with r(18) of different sizes (Stankiewicz et al 2001;Yardin et al 2001;Baumer et al 2002), may raise the possibility that deletion of the long arm of chromosome 18 may be responsible for the development of primary gonadal and thyroid failure. Such clinical traits in our case seem to be consistent with deletion in the long arm of chromosome 18.…”

Section: Discussionmentioning

confidence: 43%

Case report of de novo dup(18p)/del(18q) and r(18) mosaicism

et al. 2008

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This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH) analysis with chromosome-18 region-specific probes, 46,XX,del (18) [50]. All cell lines appeared to be missing a portion of 18q (q21.33 ? qter). The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient, which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype.

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“…Ring 18 The five adults with Ring 18 that have been reported in the literature were identified because of a pregnancy with a child with Ring 18 (Bagherizadeh et al 2011;Christensen et al 1970;Yardin et al 2001). Therefore, there is little information about the life and health of these mothers.…”

Section: Tetrasomy 18pmentioning

confidence: 99%

“…Therefore, there is little information about the life and health of these mothers. There are five reports in the literature of infants with Ring 18 who died within the first few months of life from major cardiac malformations or holoprosencephaly (Cohen et al 1972;Watanabe et al 1971;Yanoff et al 1970;Yardin et al 2001). The one interesting case is a mother with Ring 18 who was not reported as having mosaicism (Christensen et al 1970).…”

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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First familial case of ring chromosome 18 and monosomy 18 mosaicism

Cited by 13 publications

References 10 publications

Ring Autosomes: Some Unexpected Findings

Ring Autosomes: Some Unexpected Findings

Case report of de novo dup(18p)/del(18q) and r(18) mosaicism

Adults with Chromosome 18 Abnormalities

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