Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

Literature DB >> 8494034

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

L Kobrynski¹, D Chitayat, L Zahed, D McGregor, L Rochon, S Brownstein, M Vekemans, D L Albert.

Abstract

We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Golenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.

Entities: Disease Species

Mesh：

Year: 1993 PMID： 8494034 DOI： 10.1002/ajmg.1320460111

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

Keyword Cloud
Cited

13 in total

1. Unilateral semicircular canal aplasia in Goldenhar's syndrome.

Authors: M M Lemmerling; B D Vanzieleghem; G R Mortier; I J Dhooge; M F Kunnen
Journal: AJNR Am J Neuroradiol Date: 2000-08 Impact factor: 3.825

2. RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.

Authors: H B Urnovitz; J J Tuite; J M Higashida; W H Murphy
Journal: Clin Diagn Lab Immunol Date: 1999-05

Review 3. Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

Authors: Andressa Barreto Glaeser; Bruna Lixinski Diniz; Desirée Deconte; Andressa Schneiders Santos; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal: J Pediatr Genet Date: 2020-05-27

Review 9. Cri du Chat syndrome.

Authors: Paola Cerruti Mainardi
Journal: Orphanet J Rare Dis Date: 2006-09-05 Impact factor: 4.123

10. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors: Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal: Appl Clin Genet Date: 2011-07-06

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

1. Unilateral semicircular canal aplasia in Goldenhar's syndrome.

2. RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.

Review 3. Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

Review 4. A case of epibulbar osseous choristoma with review of literature.

5. Hydrocephalus in an infant with trisomy 22.

6. Live-born trisomy 22: patient report and review.

7. Role of 3D-CT for orthodontic and ENT evaluation in Goldenhar syndrome.

8. Delleman syndrome with Goldenhar overlap.

Review 9. Cri du Chat syndrome.

10. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?