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Literature DB >> 6965910

Chromosome deletion and multiple cartilaginous exostoses.

E M Bühler, U K Bühler, G R Stalder, L Jani, L P Jurik.

Abstract

We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.

Entities: Disease Species

Mesh：

Year: 1980 PMID： 6965910 DOI： 10.1007/BF00441586

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

6 in total

1. Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

Authors: V M Riccardi; E Sujansky; A C Smith; U Francke
Journal: Pediatrics Date: 1978-04 Impact factor: 7.124

2. Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.

Authors: E Stoltzfus; R L Ladda; J Lloyd-Still
Journal: J Pediatr Date: 1977-08 Impact factor: 4.406

3. Langer-Giedion syndrome.

Authors: B D Hall; L O Langer; A Giedion; D W Smith; M M Cohen; R K Beals; M Brandner
Journal: Birth Defects Orig Artic Ser Date: 1974

4. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

Authors: A Giedion; M Burdea; Z Fruchter; T Meloni; V Trosc
Journal: Helv Paediatr Acta Date: 1973-07

5. [Tricho-rhino-phalangeal syndrome].

Authors: A Giedion
Journal: Helv Paediatr Acta Date: 1966-11

6. Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

Authors: S R Andersen; P Geertinger; H W Larsen; M Mikkelsen; A Parving; S Vestermark; M Warburg
Journal: Ophthalmologica Date: 1977 Impact factor: 3.250

6 in total

19 in total

Review 1. Human chromosome 8.

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

2. 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

3. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Authors: J P Fryns; H Van den Berghe
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132

Review 4. Microcytogenetics 1984.

Authors: J de Grouchy; C Turleau
Journal: Experientia Date: 1986-10-15

Chromosome deletion and multiple cartilaginous exostoses.

1. Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

2. Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.

3. Langer-Giedion syndrome.

4. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

5. [Tricho-rhino-phalangeal syndrome].

6. Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

Review 1. Human chromosome 8.

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

3. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Review 4. Microcytogenetics 1984.

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

6. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

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

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

9. "Microcytogenetics" and Langer-Giedion syndrome.

10. A deletion in chromosome 22 can cause DiGeorge syndrome.