Journal ArticleDOI
First familial case of ring chromosome 18 and monosomy 18 mosaicism.
Catherine Yardin,Françoise Esclaire,Faraj Terro,Marie-Claire Baclet,Dominique Barthe,Cécile Laroche +5 more
About:
This article is published in American Journal of Medical Genetics.The article was published on 2001-12-01. It has received 11 citations till now. The article focuses on the topics: Monosomy & Ring chromosome.read more
Citations
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Journal ArticleDOI
Autosomal ring chromosomes in human genetic disorders
TL;DR: Familial transmission of rings from carrier to offspring has been described and prenatal diagnosis for any pregnancies should always be considered, of interest is ring chromosome 20 which has a significant association with epilepsy with seizure onset in early childhood.
Journal ArticleDOI
Ring Autosomes: Some Unexpected Findings
Lavinia Caba,Cristina Rusu,V. Plăiaşu,G. Gug,Mihaela Gramescu,C Bujoran,D. Ochiană,M Voloşciuc,Roxana Popescu,Elena Braha,Monica Pânzaru,Lăcrămioara Butnariu,Adriana Sireteanu,M Covic,Eusebiu Vlad Gorduza +14 more
TL;DR: The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring’s instability, and a possible association with oculo-auriculo-vertebral spectrum is reported in case of ring chromosome 5.
Journal ArticleDOI
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18
Altuğ Koç,Derya Kan,Kadri Karaer,Mehmet Ali Ergun,Meral Yirmibeş Karaoğuz,Kıvılcım Gücüyener,Sophie Hinreiner,Thomas Liehr,E. Ferda Percin +8 more
TL;DR: A case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic facial appearance in whom a mosaic ring chromosome 18 was found, this is the third reported patient with a dicentric ring chromosomes 18 mosaicism.
Journal ArticleDOI
Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.
Isabel M. Carreira,Alexandra Mascarenhas,Eunice Matoso,Ana Bela Couceiro,Lina Ramos,Andreas Dufke,Marie Mazauric,Rüdiger Stressig,Nadezda Kosyakova,Joana B. Melo,Thomas Liehr +10 more
TL;DR: High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype.
Journal ArticleDOI
Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism.
TL;DR: An adult male with partial hypogonadism is reported on as the sole phenotypic abnormality with an unusual chromosome abnormality, and the phenotype of the patient is discussed in light of this unusual karyotype.
References
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Journal ArticleDOI
Inherited ring chromosomes: an analysis of published cases.
TL;DR: Out of 30 transmitted rings, there were 9 where parent and child were both mosaics, suggesting an inherited instability of the chromosome involved leading to de novo re-formation of the ring in the second generation.
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"Compensatory" uniparental disomy of chromosome 21 in two cases.
Oliver Bartsch,Michael B. Petersen,I Stuhlmann,G Mau,Merete Frantzen,Eberhard Schwinger,Stylianos E. Antonarakis,Margareta Mikkelsen +7 more
TL;DR: It is reported here that this cytogenetic mechanism can result in false normal cytogenetics findings.
Journal ArticleDOI
Ring chromosome 18 in mother and daughter.
Journal ArticleDOI
Decreased cell viability of fibroblasts from two patients with a ring chromosome: An in vitro reflection of growth failure?
TL;DR: It is suggested that the decreased cell viability is due to a continuous production of hypomodal cells, a process related to the ring structure per se, and perhaps responsible for the severe somatic retardation frequently observed in patients with a ring chromosome.
Journal ArticleDOI
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
TL;DR: A 6 month old patient is reported with a ring chromosomes 18 confirmed by cytogenetic studies and in situ hybridisation and her clinical features were similar to previous cases of ring chromosome 18 syndrome.