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Case of ring chromosome 7: the first report of neuropathological findings.
Am J Med Genet. 1993 Jul 01; 46(6):632-5.AJ

Abstract

We report on a boy with ring chromosome 7 who had severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, and genital abnormalities, and died of pneumonia at age 20 months. On autopsy he had fusion of the anterior cerebral hemispheres, accompanied by agenesis of olfactory bulbs and tracts, closely resembling those found in semilobar holoprosencephaly. In addition, heterotopic Purkinje cell clusters in the cerebellar white matter, absence of pigmentation within the brainstem pigmented neurons, and severe hypomyelination in the whole brain were noted. The patient may represent the most severe manifestation of ring chromosome 7, and this is the first detailed neuropathological report on this subject.

Authors+Show Affiliations

Department of Pediatrics, Osaka University School of Medicine, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8362903

Citation

Tsukamoto, H, et al. "Case of Ring Chromosome 7: the First Report of Neuropathological Findings." American Journal of Medical Genetics, vol. 46, no. 6, 1993, pp. 632-5.
Tsukamoto H, Sakai N, Taniike M, et al. Case of ring chromosome 7: the first report of neuropathological findings. Am J Med Genet. 1993;46(6):632-5.
Tsukamoto, H., Sakai, N., Taniike, M., Nakatsukasa, M., Yoshiwara, W., Sakamoto, H., Fujimura, H., Inui, K., & Okada, S. (1993). Case of ring chromosome 7: the first report of neuropathological findings. American Journal of Medical Genetics, 46(6), 632-5.
Tsukamoto H, et al. Case of Ring Chromosome 7: the First Report of Neuropathological Findings. Am J Med Genet. 1993 Jul 1;46(6):632-5. PubMed PMID: 8362903.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case of ring chromosome 7: the first report of neuropathological findings. AU - Tsukamoto,H, AU - Sakai,N, AU - Taniike,M, AU - Nakatsukasa,M, AU - Yoshiwara,W, AU - Sakamoto,H, AU - Fujimura,H, AU - Inui,K, AU - Okada,S, PY - 1993/7/1/pubmed PY - 1993/7/1/medline PY - 1993/7/1/entrez SP - 632 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 46 IS - 6 N2 - We report on a boy with ring chromosome 7 who had severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, and genital abnormalities, and died of pneumonia at age 20 months. On autopsy he had fusion of the anterior cerebral hemispheres, accompanied by agenesis of olfactory bulbs and tracts, closely resembling those found in semilobar holoprosencephaly. In addition, heterotopic Purkinje cell clusters in the cerebellar white matter, absence of pigmentation within the brainstem pigmented neurons, and severe hypomyelination in the whole brain were noted. The patient may represent the most severe manifestation of ring chromosome 7, and this is the first detailed neuropathological report on this subject. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8362903/Case_of_ring_chromosome_7:_the_first_report_of_neuropathological_findings_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=46&issue=6&spage=632 DB - PRIME DP - Unbound Medicine ER -