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Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.
Helv Paediatr Acta. 1983 Mar; 38(1):73-80.HP

Abstract

A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed. Clinical resemblance to the eleven cases described in the literature is striking. The assays for superoxide dismutase (SOD-1) activity in the red blood cells from patient and his parents gave normal results. This findings is compatible with the hypothesis that only the segment distal to the SOD-1 locus, i.e. 21q22.2 leads to qter, has been lost during ring formation.

Authors

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Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

6345474

Citation

Ferrante, E, et al. "Partial Monosomy for a 21 Chromosome. Report of a New Case of R(21) and Review of the Literature." Helvetica Paediatrica Acta, vol. 38, no. 1, 1983, pp. 73-80.
Ferrante E, Vignetti P, Antonelli M, et al. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature. Helv Paediatr Acta. 1983;38(1):73-80.
Ferrante, E., Vignetti, P., Antonelli, M., Bruni, L., Bertasi, S., & Chessa, L. (1983). Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature. Helvetica Paediatrica Acta, 38(1), 73-80.
Ferrante E, et al. Partial Monosomy for a 21 Chromosome. Report of a New Case of R(21) and Review of the Literature. Helv Paediatr Acta. 1983;38(1):73-80. PubMed PMID: 6345474.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature. AU - Ferrante,E, AU - Vignetti,P, AU - Antonelli,M, AU - Bruni,L, AU - Bertasi,S, AU - Chessa,L, PY - 1983/3/1/pubmed PY - 1983/3/1/medline PY - 1983/3/1/entrez SP - 73 EP - 80 JF - Helvetica paediatrica acta JO - Helv Paediatr Acta VL - 38 IS - 1 N2 - A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed. Clinical resemblance to the eleven cases described in the literature is striking. The assays for superoxide dismutase (SOD-1) activity in the red blood cells from patient and his parents gave normal results. This findings is compatible with the hypothesis that only the segment distal to the SOD-1 locus, i.e. 21q22.2 leads to qter, has been lost during ring formation. SN - 0018-022X UR - https://www.unboundmedicine.com/medline/citation/6345474/Partial_monosomy_for_a_21_chromosome__Report_of_a_new_case_of_r_21__and_review_of_the_literature_ L2 - http://www.diseaseinfosearch.org/result/1512 DB - PRIME DP - Unbound Medicine ER -