Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

Yip, Moh-Ying; Selikowitz, Mark; Don, N.; Kovacic, A; Purvis‐Smith, Stuart; Lam‐Po‐Tang, P.R.L.

doi:10.1136/jmg.24.11.709

Cited by 24 publications

(29 citation statements)

References 5 publications

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“…Ring chromosome 15 syndrome and distal 15q deletions are far more frequent reported than interstitial 15 deletions but they include a different region than this interstitial deletion. We found only five reports of individual patients with mental retardation and interstitial deletions of variable size in the 15q21.1-q25 region, that have very little clinical features in common [Yip et al, 1987;Formiga et al, 1988;Martin et al, 1990;Clark, 1995]. To the best of our knowledge only two patients with an interstitial deletion of chromosome 15q24q26.1 have been reported [Verma et al, 1996;Schlembach et al, 2001].…”

Section: Introductionmentioning

confidence: 66%

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

Spruijt

Engelen

Bruinen-Smeijsters

et al. 2004

American J of Med Genetics Pt A

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We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild dysmorphism with very blue irises. We review the limited literature of interstitial 15q deletions. There was no distinct phenotypic overlap between these two cases in literature and the present patient. Additional reports are necessary in order to establish a possible recognizable deletion 15q24q26.1 phenotype.

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Section: Introductionmentioning

confidence: 66%

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

Spruijt

Engelen

Bruinen-Smeijsters

et al. 2004

American J of Med Genetics Pt A

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“…Craniosynostosis has been described in two unrelated patients with 15q15-q22.1 deletions [Fukushima et al, 1990;Shur et al, 2003]. Band 15q15 is likely to be critical for craniosynostosis, in view of the fact that patients with deletions of 15q21 (three patients), 15q21-q22 (four patients), 15q21-q24 (one patient), and q22-q25 (one patient) were without craniosynostosis [Fryns et al, 1982;Yip et al, 1987;Formiga et al, 1988;Martin et al, 1990;Liehr et al, 2003;Pramparo et al, 2005;Ades et al, 2006;Lalani et al, 2006].…”

Section: Discussionmentioning

confidence: 96%

Craniosynostosis in a patient with a de novo 15q15‐q22 deletion

Hiraki¹,

Moriuchi²,

Okamoto

et al. 2008

American J of Med Genetics Pt A

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Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2-q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 with the 17.7-Mb deletion was of the paternal origin. A critical region for craniosynostosis may be located at the 734-kb segment at 15q15.2. Interestingly, the entire FBN1 gene was deleted in this patient.

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“…However, in most of these reports, the deletion of FBN1 or the presence of marfanoid features are not discussed [24][25][26][27][28][29] . In four reports, the deletion of FBN1 is confirmed by molecular techniques, with marfanoid features in three cases 18,19,21 and absence of marfanoid features in one case, which could be due to the young age of this patient.…”

Section: Discussionmentioning

confidence: 99%

The clinical spectrum of complete FBN1 allele deletions

et al. 2010

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The most common mutations found in FBN1 are missense mutations (56%), mainly substituting or creating a cysteine in a cbEGF domain. Other mutations are frameshift, splice and nonsense mutations. There are only a few reports of patients with marfanoid features and a molecularly proven complete deletion of a FBN1 allele. We describe the clinical features of 10 patients with a complete FBN1 gene deletion. Seven patients fulfilled the Ghent criteria for Marfan syndrome (MFS). The other three patients were examined at a young age and did not (yet) present the full clinical picture of MFS yet. Ectopia lentis was present in at least two patients. Aortic root dilatation was present in 6 of the 10 patients. In three patients, the aortic root diameter was on the 95th percentile and in one patient, the diameter of the aortic root was normal, the cross-section, however, had a cloverleaf appearance. Two patients underwent aortic root surgery at a relatively young age (27 and 34 years). Mitral valve prolapse was present in 4 of the 10 patients, and billowing of the mitral valve in 1. All patients had facial and skeletal features of MFS. Two patients with a large deletion extending beyond the FBN1 gene had an extended phenotype. We conclude that complete loss of one FBN1 allele does not predict a mild phenotype, and these findings support the hypothesis that true haploinsufficiency can lead to the classical phenotype of Marfan syndrome.

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Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

Cited by 24 publications

References 5 publications

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

Craniosynostosis in a patient with a de novo 15q15‐q22 deletion

The clinical spectrum of complete FBN1 allele deletions

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