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Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.
Ann Genet. 1990; 33(1):46-8.AG

Abstract

In this report we present a 3-year-old girl with partial trisomy of the long arm of chromosome 16 due to a direct duplication 16q11.1----q13 (karyotype: 46, XX, dir dup(16) (pter----cen----q11.1----q13::q11.1----q13::q13----qter]. She presented moderate mental retardation and severe hyperkinetic behaviour. Slight dysmorphic stigmata but no internal anomalies were found.

Authors+Show Affiliations

Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

2195981

Citation

Fryns, J P., et al. "Direct Duplication 16q11.1----16q13 Is Not Associated With a Typical Dysmorphic Syndrome." Annales De Genetique, vol. 33, no. 1, 1990, pp. 46-8.
Fryns JP, Kleczkowska A, Decock P, et al. Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome. Ann Genet. 1990;33(1):46-8.
Fryns, J. P., Kleczkowska, A., Decock, P., & Van den Berghe, H. (1990). Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome. Annales De Genetique, 33(1), 46-8.
Fryns JP, et al. Direct Duplication 16q11.1----16q13 Is Not Associated With a Typical Dysmorphic Syndrome. Ann Genet. 1990;33(1):46-8. PubMed PMID: 2195981.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome. AU - Fryns,J P, AU - Kleczkowska,A, AU - Decock,P, AU - Van den Berghe,H, PY - 1990/1/1/pubmed PY - 1990/1/1/medline PY - 1990/1/1/entrez SP - 46 EP - 8 JF - Annales de genetique JO - Ann Genet VL - 33 IS - 1 N2 - In this report we present a 3-year-old girl with partial trisomy of the long arm of chromosome 16 due to a direct duplication 16q11.1----q13 (karyotype: 46, XX, dir dup(16) (pter----cen----q11.1----q13::q11.1----q13::q13----qter]. She presented moderate mental retardation and severe hyperkinetic behaviour. Slight dysmorphic stigmata but no internal anomalies were found. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/2195981/Direct_duplication_16q11_1____16q13_is_not_associated_with_a_typical_dysmorphic_syndrome_ L2 - https://medlineplus.gov/attentiondeficithyperactivitydisorder.html DB - PRIME DP - Unbound Medicine ER -