Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies

American Journal of Medical Genetics

Volumn 127 A, Issue 1, 2004, Pages 65-68

  Asamoah, Alexander ^a   Nwankwo, Martin ^a   Kumar, Savitri P ^a   Ezhuthachan, Sudhakar G ^a   Van Dyke, Daniel L ^a  

^a HENRY FORD HOSPITAL   (United States)

Author keywords

Chromosome deletion; Femoral bifurcation; Fluorescent in situ hybridization

Indexed keywords

ARTICLE; BONE MALFORMATION; CASE REPORT; CHROMOSOME 8Q; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; CRANIOFACIAL MALFORMATION; CYTOGENETICS; FEMUR MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INFANT; JOINT CONTRACTURE; KARYOTYPE; LIMB DEVELOPMENT; LOW BIRTH WEIGHT; MALE; MULTIPLE MALFORMATION SYNDROME; NEONATAL RESPIRATORY DISTRESS SYNDROME; PRIORITY JOURNAL;

EID: 3142782797     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20626     Document Type: Article

References (11)

1. Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenda PE, Palka G, Dallapiccola B. 1998. Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: Implications for mapping and cloning a Duane gene. Eur J Hum Genet 6:187-193.
2. Donahue ML, Ryan RM. 1995. Interstitial deletion of 8q21-22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. Am J Med Genet 56:97-100.
3. Fryburg JS, Golden WL. 1993. Interstitial deletion of 8q11.3-22.1 associated with craniosynostosis. Am J Med Genet 45:638-641.
4. Gollop TR, Lucchesi E, Martins RMM, Nione AS. 1980. Brief Clinical report: Familial occurrence of bifid femur and mondactylous ectrodactyly. Am J Med Genet 7:319-322.
5. Haan EA, Hull YJ, White S, Cockington R, Charlton P, Callen DF. 1989. Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. Am J Med Genet 32: 490-494.
6. Kazukawa S, Endo M, Fujita T, Hori A, Yamada K, Yamaguchi T, Aizawa T, Maruyama S. 1986. Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome. Jpn J Psychiatr Neurol 40:221-226.
7. Schinzel AA, Robinson WP, Binkert F, Fanconi A. 1994. An interstitial deletion of proximal 8q(q11-q13) in a girl with Silver-Russell syndrome-like features. Clin Dysmorphol 3:63-69.
8. Steven CA, Moore CA. 1999. Tibial hemimelia in Langer-Giedion syndrome-Possible gene location for tibial hemimelia at 8q. Am J Med Genet 85:409-412.
9. Taysi K, Noetzel MJ, Strauss AW. 1979. Presumptive long arm deletion of chromosome 8: A new syndrome? Hum Genet 51:49-53.
10. Turleau C, Chavin-Colin F, deGrouchy J, Maroteaux P, Rivera H. 1982. Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23. Hum Genet 62:183-187.
11. Wang Y, Treat K, Schroer RJ, O'Brien JE, Stevenson RE, Schwartz CE. 1994. Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. Am J Med Genet 51:169-175.