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A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
Eur J Med Genet. 2008 Jan-Feb; 51(1):74-80.EJ

Abstract

We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes.

Authors

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

Pub Type(s)

Case Reports
Letter

Language

eng

PubMed ID

18024240

Citation

Rooryck, Caroline, et al. "A 580 Kb Microdeletion in 17q21.32 Associated With Mental Retardation, Microcephaly, Cleft Palate, and Cardiac Malformation." European Journal of Medical Genetics, vol. 51, no. 1, 2008, pp. 74-80.
Rooryck C, Burgelin I, Stef M, et al. A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation. Eur J Med Genet. 2008;51(1):74-80.
Rooryck, C., Burgelin, I., Stef, M., Taine, L., Thambo, J. B., Lacombe, D., & Arveiler, B. (2008). A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation. European Journal of Medical Genetics, 51(1), 74-80.
Rooryck C, et al. A 580 Kb Microdeletion in 17q21.32 Associated With Mental Retardation, Microcephaly, Cleft Palate, and Cardiac Malformation. Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. PubMed PMID: 18024240.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation. AU - Rooryck,Caroline, AU - Burgelin,Ingrid, AU - Stef,Marianne, AU - Taine,Laurence, AU - Thambo,Jean-Benoît, AU - Lacombe,Didier, AU - Arveiler,Benoît, Y1 - 2007/10/02/ PY - 2007/07/26/received PY - 2007/09/23/accepted PY - 2007/11/21/pubmed PY - 2008/6/7/medline PY - 2007/11/21/entrez SP - 74 EP - 80 JF - European journal of medical genetics JO - Eur J Med Genet VL - 51 IS - 1 N2 - We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/18024240/A_580_kb_microdeletion_in_17q21_32_associated_with_mental_retardation_microcephaly_cleft_palate_and_cardiac_malformation_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(07)00099-7 DB - PRIME DP - Unbound Medicine ER -