Tags

Type your tag names separated by a space and hit enter

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.

Links

Publisher Full Text

Authors

Voss R
No affiliation info available
Lerer I
No affiliation info available
Maftzir G
No affiliation info available
Sheinis M
No affiliation info available
Cohen MM
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, 13-15FaceHumansIntellectual DisabilityKaryotypingKyphosisMaleModels, GeneticMosaicismPsychomotor DisordersTrisomy

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 -