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De novo tandem duplication of the middle segment of the long arm of chromosome 14.
Ann Genet. 1983; 26(2):116-9.AG

Abstract

A boy with a peculiar face and slight psychomotor retardation was found to have a tandem duplication of segment 14q13-22. The karyotype was described as 46,XY, dir dup (14)(pter-q22::q13-q22::q22-qter), being trisomic for the segment. His parents were normal both phenotypically and cytogenetically. The clinical features of the propositus were compared with those of previously reported cases of trisomy 14q involving segment 14q13-22.

Authors

Ito M
No affiliation info available
Mutoh K
No affiliation info available
Okuno T
No affiliation info available
Mikawa H
No affiliation info available
Edagawa J
No affiliation info available
Abe T
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, 13-15HumansInfantKaryotypingMaleTrisomy

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6604486

Citation

Ito, M, et al. "De Novo Tandem Duplication of the Middle Segment of the Long Arm of Chromosome 14." Annales De Genetique, vol. 26, no. 2, 1983, pp. 116-9.
Ito M, Mutoh K, Okuno T, et al. De novo tandem duplication of the middle segment of the long arm of chromosome 14. Ann Genet. 1983;26(2):116-9.
Ito, M., Mutoh, K., Okuno, T., Mikawa, H., Edagawa, J., & Abe, T. (1983). De novo tandem duplication of the middle segment of the long arm of chromosome 14. Annales De Genetique, 26(2), 116-9.
Ito M, et al. De Novo Tandem Duplication of the Middle Segment of the Long Arm of Chromosome 14. Ann Genet. 1983;26(2):116-9. PubMed PMID: 6604486.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - De novo tandem duplication of the middle segment of the long arm of chromosome 14. AU - Ito,M, AU - Mutoh,K, AU - Okuno,T, AU - Mikawa,H, AU - Edagawa,J, AU - Abe,T, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 116 EP - 9 JF - Annales de genetique JO - Ann Genet VL - 26 IS - 2 N2 - A boy with a peculiar face and slight psychomotor retardation was found to have a tandem duplication of segment 14q13-22. The karyotype was described as 46,XY, dir dup (14)(pter-q22::q13-q22::q22-qter), being trisomic for the segment. His parents were normal both phenotypically and cytogenetically. The clinical features of the propositus were compared with those of previously reported cases of trisomy 14q involving segment 14q13-22. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/6604486/De_novo_tandem_duplication_of_the_middle_segment_of_the_long_arm_of_chromosome_14_ DB - PRIME DP - Unbound Medicine ER -