Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: Coincidental finding or etiologic factor?

Journal of Craniofacial Genetics and Developmental Biology

Volumn 20, Issue 3, 2000, Pages 150-154

  Stanojevic M ^a   Stipoljev, F ^a   Koprcina B ^a   Kurjak, A ^a  

^a UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

Chromosome 9; Etiology; Goldenhar syndrome; OAV spectrum; Pericentric inversion

Indexed keywords

ACCESSORY SPLEEN; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME BREAKAGE; CLINICAL FEATURE; FEMALE; GESTATIONAL AGE; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; KIDNEY AGENESIS; NEWBORN; PERICENTRIC CHROMOSOME INVERSION; PREMATURITY; PRIORITY JOURNAL; SKELETON MALFORMATION; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GOLDENHAR SYNDROME; HUMANS; INFANT, NEWBORN; INVERSION, CHROMOSOME; PHENOTYPE; RIBS;

EID: 0034468140     PISSN: 02704145     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: Coincidental finding or aetiologic factor?
2. Anatomical analysis of the developmental effects of aneuploidy in man. The 18 trisomy syndrome. I. Anomalies of the head and neck
3. Partial deletion of the long arm of chromosome E-18
4. Cephalothoracopagus syncephalus: A case report with previously unreported anatomical abnormalities and chromosomal analysis
5. Partial deletion of short arms of a chromosome of the 4-5 group
6. Exclusion of chromosome 9 helps to identify mild variants of acromelic dysplasia Maroteaux type
7. Ectodermal dysplasia in females and inversion of chromosome 9
8. Associations malformatives de l'oeil et de l'oreille: En particulier, le syndrome: Dermoide epibulbaireappendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale
9. Oculoauriculovertebral dysplasia
10. Chromosome abnormalities associated with facioauriculo-vertebral spectrum
11. Hemifacial microsomia and abnormal chromosome 22
12. Multiple congenital anomaly/mental retardation (MCA/MR syndrome with Goldenhar complex due to terminal del(22q)
13. Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5
14. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia
15. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion
16. Oculoauriculovertebral anomaly: Segregation analysis
17. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence
18. Pericentric inversion of chromosome 9 and personality disorder
19. 49,XXXXY patient with hemifacial microsomia
20. Combination of Goldenhar's syndrome with cri-du-chat syndrome
21. Total situs inversus associated with the oculo-auriculo-vertebral spectrum
22. Congenital myotonic dystrophy associated with a chromosome pericentric inversion
23. Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
24. Hemifacial microsomia in cri du chat (5p-) syndrome
25. Jarcho-Levin syndrome - A report of an autopsy case with cytogenetic analysis
26. Hemifacial microsomia in a patient with Klinefelter syndrome
27. Goldenhar sequence and mosaic trisomy 22
28. 46,XX gonadal dysgenesis with epibulbar dermoid
29. Oculo-auriculo-vertebral spectrum with vascular ring and other unusual anomalies
30. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex
31. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients
32. A case report of inverted chromosome no. 9 (homozygote)
33. Syndrome and de novo autosomal t(9;21)(p11;p11) translocation
34. Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome
35. Recombinant chromosome 18 in two male sibs with first and second branchial arch syndrome
36. Pericentric inversion 9 - Incidence and clinical significance
37. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
38. Inherited partial trisomy 8q(22→qter)
39. Oculoauriculo-vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients
40. Cranial defects in the Goldenhar syndrome
41. Trisomy 9 mosaicism: Another etiology for the manifestations of Goldenhar syndrome