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Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.
Ann Genet. 1981; 24(4):248-50.AG

Abstract

Partial trisomy for the short arm and the proximal region of the long arm of chromosome 18 was observed in a male child of 4 years of age. The trisomy appeared de novo as a free, practically metacentric chromosome. A review of other cases of partial trisomy 18 suggests that there is a critical segment of the chromosome responsible for typical phenotype of the trisomy 18. In this report we add the description of a new case to the work already carried out in the delimitation of this critical segment.

Authors

San Martin V
No affiliation info available
Fernandez-Novoa C
No affiliation info available
Hevia A
No affiliation info available
Novales A
No affiliation info available
Fornell J
No affiliation info available
Galera H
No affiliation info available

MeSH

Abnormalities, MultipleChild, PreschoolChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, 16-18HumansIntellectual DisabilityMalePhenotypeTrisomy

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6977308

Citation

San Martin, V, et al. "Partial Trisomy of Chromosome 18 (pter Leads to Q11): a Discussion On the Identification of the Critical Segment." Annales De Genetique, vol. 24, no. 4, 1981, pp. 248-50.
San Martin V, Fernandez-Novoa C, Hevia A, et al. Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment. Ann Genet. 1981;24(4):248-50.
San Martin, V., Fernandez-Novoa, C., Hevia, A., Novales, A., Fornell, J., & Galera, H. (1981). Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment. Annales De Genetique, 24(4), 248-50.
San Martin V, et al. Partial Trisomy of Chromosome 18 (pter Leads to Q11): a Discussion On the Identification of the Critical Segment. Ann Genet. 1981;24(4):248-50. PubMed PMID: 6977308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment. AU - San Martin,V, AU - Fernandez-Novoa,C, AU - Hevia,A, AU - Novales,A, AU - Fornell,J, AU - Galera,H, PY - 1981/1/1/pubmed PY - 1981/1/1/medline PY - 1981/1/1/entrez SP - 248 EP - 50 JF - Annales de genetique JO - Ann Genet VL - 24 IS - 4 N2 - Partial trisomy for the short arm and the proximal region of the long arm of chromosome 18 was observed in a male child of 4 years of age. The trisomy appeared de novo as a free, practically metacentric chromosome. A review of other cases of partial trisomy 18 suggests that there is a critical segment of the chromosome responsible for typical phenotype of the trisomy 18. In this report we add the description of a new case to the work already carried out in the delimitation of this critical segment. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/6977308/Partial_trisomy_of_chromosome_18__pter_leads_to_q11_:_a_discussion_on_the_identification_of_the_critical_segment_ L2 - http://www.diseaseinfosearch.org/result/2476 DB - PRIME DP - Unbound Medicine ER -