Abstract
A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.
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- Bridge J., Sanger W., Mosher G., Buehler B., Nelson R., Welsh M., Newland J., Kafka M. Partial deletion of distal 17q. Am J Med Genet. 1985 Jun;21(2):225–229. doi: 10.1002/ajmg.1320210204. [DOI] [PubMed] [Google Scholar]
- Burden M., Lupaşcu E., Mărgineanu L. Un caz familial de cromozom din grupa E în inel (17) r cu transmitere de la tată la fiu. Rev Med Chir Soc Med Nat Iasi. 1973 Apr-Jun;77(2):353–357. [PubMed] [Google Scholar]
- Carpenter N. J., Leichtman L. G., Stamper S., Say B. An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? J Med Genet. 1981 Jun;18(3):234–236. doi: 10.1136/jmg.18.3.234. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Chudley A. E., Pabello P. D., McAlpine P. J., Nickel B. E., Shokeir M. H. Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations. Am J Med Genet. 1982 Jun;12(2):219–225. doi: 10.1002/ajmg.1320120212. [DOI] [PubMed] [Google Scholar]
- Dobyns W. B., Stratton R. F., Parke J. T., Greenberg F., Nussbaum R. L., Ledbetter D. H. Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr. 1983 Apr;102(4):552–558. doi: 10.1016/s0022-3476(83)80183-8. [DOI] [PubMed] [Google Scholar]
- Jones K. L., Gilbert E. F., Kaveggia E. G., Opitz J. M. The MIller-Dieker syndrome. Pediatrics. 1980 Aug;66(2):277–281. [PubMed] [Google Scholar]
- Norman M. G., Roberts M., Sirois J., Tremblay L. J. Lissencephaly. Can J Neurol Sci. 1976 Feb;3(1):39–46. doi: 10.1017/s0317167100025981. [DOI] [PubMed] [Google Scholar]
- Ono K., Suzuki Y., Fujii I., Takeshita K., Arima M. [A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)]. Jinrui Idengaku Zasshi. 1974 Dec;19(3):235–242. [PubMed] [Google Scholar]
- Petit P., Koulischer L. Etude d'une mosaïque 46,XX-46,XX,17r. Ann Genet. 1971 Mar;14(1):55–58. [PubMed] [Google Scholar]
- Qazi O. H., Madahar C., Kanchanapoomi R., Giridharan R., Beller E. Ring chromosome 17 in a mentally retarded boy. Ann Genet. 1979;22(4):234–238. [PubMed] [Google Scholar]
- Schwartz C. E., Johnson J. P., Holycross B., Mandeville T. M., Sears T. S., Graul E. A., Carey J. C., Schroer R. J., Phelan M. C., Szollar J. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet. 1988 Nov;43(5):597–604. [PMC free article] [PubMed] [Google Scholar]
- Selypes A., László A. Miller-Dieker syndrome and monosomy 17p13: a new case. Hum Genet. 1988 Sep;80(1):103–104. doi: 10.1007/BF00451469. [DOI] [PubMed] [Google Scholar]
- Stratton R. F., Dobyns W. B., Airhart S. D., Ledbetter D. H. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984;67(2):193–200. doi: 10.1007/BF00273000. [DOI] [PubMed] [Google Scholar]
- Weinberg A. G., Bair J. L., Harrod M. J. Ring 17 chromosome detected by amniocentesis. Humangenetik. 1975 Jul 23;28(3):269–272. doi: 10.1007/BF00278557. [DOI] [PubMed] [Google Scholar]
- vanTuinen P., Dobyns W. B., Rich D. C., Summers K. M., Robinson T. J., Nakamura Y., Ledbetter D. H. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet. 1988 Nov;43(5):587–596. [PMC free article] [PubMed] [Google Scholar]