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Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
Ann Genet. 1989; 32(3):174-6.AG

Abstract

In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.

Authors+Show Affiliations

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

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2573314

Citation

Fryns, J P., et al. "Partial Duplication of the Short Arm of Chromosome 2 (dup(2)(p13----p21) Associated With Mental Retardation and an Aarskog-like Phenotype." Annales De Genetique, vol. 32, no. 3, 1989, pp. 174-6.
Fryns JP, Kleczkowska A, Kenis H, et al. Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype. Ann Genet. 1989;32(3):174-6.
Fryns, J. P., Kleczkowska, A., Kenis, H., Decock, P., & Van den Berghe, H. (1989). Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype. Annales De Genetique, 32(3), 174-6.
Fryns JP, et al. Partial Duplication of the Short Arm of Chromosome 2 (dup(2)(p13----p21) Associated With Mental Retardation and an Aarskog-like Phenotype. Ann Genet. 1989;32(3):174-6. PubMed PMID: 2573314.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype. AU - Fryns,J P, AU - Kleczkowska,A, AU - Kenis,H, AU - Decock,P, AU - Van den Berghe,H, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 174 EP - 6 JF - Annales de genetique JO - Ann Genet VL - 32 IS - 3 N2 - In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/2573314/Partial_duplication_of_the_short_arm_of_chromosome_2__dup_2__p13____p21__associated_with_mental_retardation_and_an_Aarskog_like_phenotype_ L2 - https://www.diseaseinfosearch.org/result/4607 DB - PRIME DP - Unbound Medicine ER -