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Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations.

التفاصيل البيبلوغرافية
العنوان: Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations.
المؤلفون: Osiak L; Laboratory of Developmental Toxicology, Department of General Biology, State University of Londrina., Saraiva JG; Laboratory of Developmental Toxicology, Department of General Biology, State University of Londrina., Mestre VF; Laboratory of Developmental Toxicology, Department of General Biology, State University of Londrina., Ferrari LSL; Department of Pediatrics and Pediatric Surgery, State University of Londrina., Paiva WJM; Genetic Counseling Service, Department of General Biology, State University of Londrina, Londrina, Paraná., de Lima RLLF; Human Genetics and Mutagenesis Laboratory, Department of Genetics, Institute of Biology, Federal University of Bahia, Salvador, Brazil., Salles MJS; Laboratory of Developmental Toxicology, Department of General Biology, State University of Londrina.
المصدر: Clinical dysmorphology [Clin Dysmorphol] 2020 Jul; Vol. 29 (3), pp. 165-166.
نوع المنشور: Case Reports; Letter
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE
أسماء مطبوعة: Publication: London : Lippincott Williams & Wilkins
Original Publication: London, UK : Chapman & Hall, c1992-
مواضيع طبية MeSH: Monosomy/*genetics, Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 21/genetics ; Female ; Humans ; Infant
References: Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, et al. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet. 2012; 49:731–736.
Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, et al. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet. 2010; 77:145–154.
Riegel M, Hargreaves P, Baumer A, Guc-Scekic M, Ignjatovic M, Schinzel A. Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. Eur J Med Genet. 2005; 48:167–174.
Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, et al. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet. 2011; 19:235–238.
Toral-Lopez J, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. Complete monosomy mosaic of chromosome 21: case report and review of literature. Gene. 2012; 510:175–179.
van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, et al. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet. 2011; 79:296–299.
SCR Disease Name: Chromosome 21 monosomy
تواريخ الأحداث: Date Created: 20200606 Date Completed: 20210504 Latest Revision: 20210504
رمز التحديث: 20231215
DOI: 10.1097/MCD.0000000000000310
PMID: 32501867
قاعدة البيانات: MEDLINE
الوصف
تدمد:1473-5717
DOI:10.1097/MCD.0000000000000310