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Literature DB >> 3490425

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

Abstract

In the present report we present the first example of a small interstitial 8q24.12 deletion in a patient with trichorhinophalangeal syndrome type I.

Entities: Disease Species

Mesh：

Substances：
Genetic Markers

Year: 1986 PMID： 3490425 DOI： 10.1007/BF00282091

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

9 in total

1. Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).

Authors: J P Fryns; N Logghe; M Van Eygen; H Van Der Berghe
Journal: Hum Genet Date: 1979-04-17 Impact factor: 4.132

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

Authors: P Bowen; B Biederman; J J Hoo
Journal: Ann Genet Date: 1985

3. Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

Authors: R A Pfeiffer
Journal: Clin Genet Date: 1980-08 Impact factor: 4.438

4. Langer-Giedion syndrome and deletion of the long arm of chromosome 8.

Authors: J P Fryns; N Logghe; M van Eygen; H Van den Berghe
Journal: Hum Genet Date: 1981 Impact factor: 4.132

5. Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.

Authors: J P Fryns; G Heremans; J Marien; H Van den Berghe
Journal: Hum Genet Date: 1983 Impact factor: 4.132

6. Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

Authors: C Turleau; F Chavin-Colin; J de Grouchy; P Maroteaux; H Rivera
Journal: Hum Genet Date: 1982 Impact factor: 4.132

7. Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

Authors: W G Wilson; H E Wyandt; H Shah
Journal: Am J Dis Child Date: 1983-05

8. Chromosome deletion and multiple cartilaginous exostoses.

Authors: E M Bühler; U K Bühler; G R Stalder; L Jani; L P Jurik
Journal: Eur J Pediatr Date: 1980-03 Impact factor: 3.183

9. Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).

Authors: Y Fukushima; Y Kuroki; T Izawa
Journal: Hum Genet Date: 1983 Impact factor: 4.132

9 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

Review 2. Human chromosome 8.

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

3. 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

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

1. Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).

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

3. Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

4. Langer-Giedion syndrome and deletion of the long arm of chromosome 8.

5. Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.

6. Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

7. Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

8. Chromosome deletion and multiple cartilaginous exostoses.

9. Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).

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

Review 2. Human chromosome 8.

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

Review 4. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

5. Genetic heterogeneity in families with hereditary multiple exostoses.

6. Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

Review 7. Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

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

9. Trichorhinophalangeal syndrome type 1: A case report with literature review.