Temporal bone histopathologic findings in a case of interstitia deletion of the long arm of chromosome 2 [del(2) (q31q33)]

International Journal of Pediatric Otorhinolaryngology

Volumn 48, Issue 1, 1999, Pages 31-37

  Kondo, Kenji ^a   Kaga, Kimitaka ^a   Ogawa, Yoshihiro ^b   Fukushima, Yoshimitsu ^c  

^a UNIVERSITY OF TOKYO   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Chromosome 2; Chromosome deletion; Histology; Human; Temporal bone

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COCHLEA; COCHLEAR NERVE; CONGENITAL MALFORMATION; CORTI ORGAN; FACIAL NERVE; FEMALE; GENE DELETION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTERNAL AUDITORY CANAL; NEWBORN; PREGNANCY TOXEMIA; PRIORITY JOURNAL; SPIRAL GANGLION; TEMPORAL BONE;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 2; COCHLEA; COCHLEAR NERVE; EAR CANAL; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; SPIRAL GANGLION; TEMPORAL BONE;

EID: 0033602627     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-5876(99)00003-8     Document Type: Article

References (19)

1. S. Warter, C. Lausecker, A. Pennerath, Etude Chromosomique et clinique d'une fillette porteuse d'une deletion (2)(q34q36), Hum. Genet. 32 (1976) 225-227.
2. Y. Chinen, T. Tohma, Y. Izumikawa, T. Iha, Y. Goya, K. Naritomi, Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome, Jpn. J. Hum. Genet. 41 (1996) 323-328.
3. J.C. Ramer, R.L. Ladda, C.A. Frankel, A. Beckford, A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2, Am. J. Med. Genet. 32 (1989) 359-363.
4. J.C. Ramer, P.N. Mowrey, D.B. Robins, S. Ligato, J. Towfighi, R.L. Ladda, Five children with del(2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations, Am. J. Med. Genet. 37 (1990) 392-400.
5. R.G. Boles, B.R. Pober, L.H. Gibson, C.R. Willis, J. McGrath, D.J. Roberts, Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review, Am. J. Med. Genet. 55 (1995) 155-160.
6. H.F. Schuknecht, Techniques for study of cochlear function and pathology in experimental animals, Arch. Otolaryngol. 58 (1953) 377-397.
7. I. Sando, A. Leiberman, L. Bergstrom, S. Izumi, R.P.d. Wood, Temporal bone histopathological findings in trisomy 13 syndrome, Ann. Otol. Rhinol. Laryngol. 84 (Suppl. 21) (1975) 1-20.
8. H. Bilgin, L. Kasemsuwan, P.A. Schachern, M.M. Paparella, C.T. Le, Temporal bone study of Down's syndrome, Arch. Otolaryngol. Head Neck Surg. 122 (1996) 271-275.
9. H.F. Schuknecht, Mondini dysplasia: a clinical and pathological study, Ann. Otol. Rhinol. Laryngol. 89 (suppl. 65) (1980) 1-23.
10. K.H. Chan, E.A. Eelkema, J.M.R. Furman, D.B. Kamerer, Familial sensorineural hearing loss: a correlative study of audiologic, radiographic, and vestibular findings, Ann. Otol. Rhinol. Laryngol. 100 (1991) 620-625.
11. S.L. Mansour, J.M. Goddard, M.R. Capecchi, Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear, Development 117 (1993) 13-28.
12. M. Mark, T. Lufkin, J.L. Vonesch, E. Rubelte, J.C. Olivo, P. Dolle, et al., Two rhombomeres are altered in Hoxa-1 mutant mice, Development 119 (1993) 319-338.
13. G. Casey, R. Smith, D. McGillivray, G. Peters, C. Dickson, Characterization and chromosome assignment of the human homolog of int-2, a potential proto-oncogene, Mol. Cell. Biol. 6 (1986) 502-510.
14. A.O. Kos, H.F. Schuknecht, J.D. Singer, Temporal bone studies in 13-15 and 18 trisomy syndromes, Arch. Otolaryngol. 83 (1966) 439-445.
15. R. Saito, A. Fujimoto, A. Fujita, N. Takata, T. Tomotsu, Temporal bone histopathology of atresia auris congenita with chromosome aberration, Acta. Otolaryngol. Suppl. 393 (1983) 96-104.
16. J.A. Donaldson, L.G. Duckert, P.M. Lambert, E.W. Rubel, Surgical anatomy of the temporal bone, 4th ed., Raven Press, New York, 1992.
17. R.F. Gasser, The development of the facial nerve in man, Ann. Otol. Rhinol. Laryngol. 76 (1967) 37-56.
18. R.L. Friede, Developmental Neuropathology, 2nd ed., Springer-Verlag, Berlin, 1989.
19. B. Fritzsch, I. Silos-Santiago, R. Smeyne, A.M. Fagan, M. Barbacid, Reduction and loss of inner ear innervation in trkB and trkC receptor knockout mice: a whole mount DiI and scanning electron microscopic analysis, Audiol. Neurosci. 1 (1995) 401-417.