A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Author:

Elliott J,Maltby E L,Reynolds B

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Deletion 14q(q22q23) associated with anophthalmia, absent pituitary, and other abnormalities;Bennett, C.P.; Betts, D.R.; Seller, M.J.;J Med Genet,1991

2. Two patients with interstitial del(14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-lantitrypsin);Turleau, C.; de Grouchy, J.; Chavin-Colin, F.;Ann Genet (Paris),1984

3. A case of partial monosomy 14q;Kawamura, G.; Suzuki, M.; Segawa, T.;J Pediatr Pract,1985

4. Deletion 14q(q24.3 to q32.1) syndrome; significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi (os,- antitrypsin);Yamamoto, Y.; Sawa, R.; Okamoto, N.;Hum Genet,1986

5. A child with multiple congenital anomalies and karyotype 46, XY, del(14) (q31q32.3). Further delineation of chromosome 14 interstitial deletion syndrome;Gorski, J.L.; Uhlmann, W.R.; Glover, T.W.;AmJ7 Med Genet,1990

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