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Literature DB >> 3879433

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

Abstract

An 18-year-old intellectually normal male with characteristic features of the Langer-Giedion syndrome is reported. High resolution chromosome analysis showed a small deletion in the region of bands 8q24.11 and 8q24.12 in addition to an apparently balanced de novo translocation (2;9)(q21;q13). This finding provides additional information on the minimum deleted segment required to produce the Langer-Giedion syndrome and may indicate that deletions of this size or smaller are not necessarily associated with mental retardation.

Entities: Disease

Mesh：

Year: 1985 PMID： 3879433

Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995

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Cited

11 in total

1. A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

Authors: T Sasaki; H Tonoki; H Soejima; N Niikawa
Journal: J Med Genet Date: 1997-04 Impact factor: 6.318

2. Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

Authors: R F Ogle; P Dalzell; G Turner; D Wass; M Y Yip
Journal: J Med Genet Date: 1991-12 Impact factor: 6.318

3. The phenotype of recurrent 10q22q23 deletions and duplications.

Authors: Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal: Eur J Hum Genet Date: 2011-01-19 Impact factor: 4.246

Review 4. Human chromosome 8.

Authors: S Wood
Journal: J Med Genet Date: 1988-11 Impact factor: 6.318

5. Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.

Authors: K Naritomi; K Hirayama
Journal: Hum Genet Date: 1989-05 Impact factor: 4.132

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

1. A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

2. Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

3. The phenotype of recurrent 10q22q23 deletions and duplications.

Review 4. Human chromosome 8.

5. Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.

6. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Review 7. Microdeletion syndromes, balanced translocations, and gene mapping.

8. Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

Review 9. Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

10. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.