A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

Author:

Sasaki T,Tonoki H,Soejima H,Niikawa N

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Mendelian inheritance in man: catalogs of human genes and genetic disorders;McKusick, V.A.,1994

2. Autosomal dominant transmission of the tricho-rhinophalangeal syndrome: report of 4 unrelated families, review of 60 cases;Giedion, A.; Burdea, M.; Fruchter, Z.; Meloni, T.; Trosc, V.;Helv Paediatr Acta,1973

3. The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion. Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?;Buhler, E.M.; Malik, N.J.;Am _7 Med Genet,1984

4. 8q24.12 interstitial deletion in trichorhinophalangeal syndrome type;Fryns, J.P.; Van den Berghe, H.;I. Hum Genet,1986

5. A final word on the tricho-rhino-phalangeal syndromes;Buhler, E.M.; Buhler, U.K.; Beutler, C.; Fessler, R.;Clin Genet,1987

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