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Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)).
Am J Med Genet. 1982 Jun; 12(2):131-9.AJ

Abstract

An abnormal karyotype consisting of 48 chromosomes has been found in a 16-year-old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q - and a small metacentric marker appear as derivatives of chromosome 15(48, XY, + 15q -, + mar(15). The healthy father has a mosaic chromosome constitution 46, XY/47, XY, + mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q - chromosome responsible for the clinical syndrome of the propositus.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7102721

Citation

Voss, R, et al. "Partial Trisomy 15 in a Male With Severe Psychomotor Retardation (48, XY, + 15q -, + Mar(15))." American Journal of Medical Genetics, vol. 12, no. 2, 1982, pp. 131-9.
Voss R, Lerer I, Maftzir G, et al. Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)). Am J Med Genet. 1982;12(2):131-9.
Voss, R., Lerer, I., Maftzir, G., Sheinis, M., & Cohen, M. M. (1982). Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)). American Journal of Medical Genetics, 12(2), 131-9.
Voss R, et al. Partial Trisomy 15 in a Male With Severe Psychomotor Retardation (48, XY, + 15q -, + Mar(15)). Am J Med Genet. 1982;12(2):131-9. PubMed PMID: 7102721.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)). AU - Voss,R, AU - Lerer,I, AU - Maftzir,G, AU - Sheinis,M, AU - Cohen,M M, PY - 1982/6/1/pubmed PY - 1982/6/1/medline PY - 1982/6/1/entrez SP - 131 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 12 IS - 2 N2 - An abnormal karyotype consisting of 48 chromosomes has been found in a 16-year-old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q - and a small metacentric marker appear as derivatives of chromosome 15(48, XY, + 15q -, + mar(15). The healthy father has a mosaic chromosome constitution 46, XY/47, XY, + mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q - chromosome responsible for the clinical syndrome of the propositus. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7102721/Partial_trisomy_15_in_a_male_with_severe_psychomotor_retardation__48_XY_+_15q___+_mar_15___ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1982&volume=12&issue=2&spage=131 DB - PRIME DP - Unbound Medicine ER -