Siri Fredheim,Jannet Svensson,Sven Pørksen et al.
Siri Fredheim et al.
Aim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene. Methods/Results. A Danish patient, his sister, and his father were identified...
Case Reports
Case reports in genetics. 2011:2011:258978. DOI:10.1155/2011/258978 2011
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report [0.03%]
一对接受体外受精的夫妇中的染色体21环状染色体遗传性：案例报告
Roberto L P Mazzaschi,Donald R Love,Ian Hayes et al.
Roberto L P Mazzaschi et al.
An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), wi...
Case Reports
Case reports in genetics. 2011:2011:158086. DOI:10.1155/2011/158086 2011
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome [0.03%]
意义未明的单克隆免疫球蛋白血症(MGUS)伴发脆性X染色体综合症共核综合征(FXTAS)男性患者
Tanjung A Sumekar,Aneel A Ashrani,Tri I Winarni et al.
Tanjung A Sumekar et al.
We report the clinical presentation and laboratory findings of a 69-year-old man with fragile X-associated tremor ataxia syndrome (FXTAS), a progressive neurodegenerative disorder, who was noted to have monoclonal gammopathy of undetermined...
Case Reports
Case reports in genetics. 2011:2011:143132. DOI:10.1155/2011/143132 2011
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis [0.03%]
染色体微阵列分析检测到的10号染色体短臂p11.22-p15.3部分三体和7号染色体短臂p22.3单体会引起的临床发现：病例报告
Omid Kohannim,Jane Peredo,Katrina M Dipple et al.
Omid Kohannim et al.
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22...
Case Reports
Case reports in genetics. 2011:2011:131768. DOI:10.1155/2011/131768 2011