Simultaneous interdisciplinary counseling in German breast/ovarian cancer families: first experiences with patient perceptions, surveillance behavior and acceptance of genetic testing [0.03%]
德国乳腺癌/卵巢癌家系的多学科综合咨询：患者认知、随访行为和接受基因检测情况的初步分析
S Hofferbert,U Worringen,J Backe et al.
S Hofferbert et al.
As part of a multicenter study supported by the German Mildred Scheel foundation we have established an interdisciplinary counseling setting for members of breast and/or ovarian cancer families. We offer simultaneous counseling by a team co...
Multicenter Study
Genetic counseling (Geneva, Switzerland). 2000;11(2):127-46. DOI: 2000
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence [0.03%]
一条10号染色体缺失导致的婴儿期Prader-Wili综合征和青春期特殊行为表型患者报告
T Lukusa,J P Fryns
T Lukusa
A male patient is reported with terminal 10q26 deletion and clinical findings suggesting Prader-Willi syndrome during the infancy. These findings included decreased fetal movements, neonatal hypotonia, need for tube feeding, characteristic ...
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling [0.03%]
马登-沃克综合征：病例报告、分类学讨论及咨询方面的问题
L Garavelli,A Donadio,G Banchini et al.
L Garavelli et al.
The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retard...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):111-8. DOI: 2000
Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms [0.03%]
三种类型的史密斯-马格尼斯综合征患儿：独特的可识别行为表型是最重要的临床症状
D Willekens,P De Cock,J P Fryns
D Willekens
We report on the development and behaviour of three young children with Smith-Magenis syndrome (SMS), del 17p11.2. The behaviour problems and the psychomotor delay in preschool children with SMS are often more striking than the dysmorphic f...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(2):103-10. DOI: 2000
Psychological assessment in XLMR: a proposal for setting international standards [0.03%]
XLR患者的心理评估：制定国际标准的建议
G S Fisch
G S Fisch
The need for an agreed upon set of standards for assessing individuals with XLMR was made quite evident this past year at the Fragile X and XLMR Workshop in Strasbourg. Several affected individuals from different families may have been inco...
I Witters,P Moerman,E Jankelevitch et al.
I Witters et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(1):61-2. DOI: 2000
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly [0.03%]
先天性合同球拍手畸形家系中的掌指关节表型
A Guala,C Danesino,D M Milewicz et al.
A Guala et al.
Chromosomal abnormalities in mentally retarded children in the Konya region--Turkey [0.03%]
土耳其Konya地区的智力低下儿童的染色体异常情况
T Cora,S Demirel,A Acar
T Cora
Etiology of mental retardation is diverse. 120 Students from 11 special training, education, and rehabilitation subclasses were investigated cytogenetically for determining the contribution of chromosomal abnormalities to mild mental retard...
G Vantrappen,L Feenstra,C Macours-Verelst et al.
G Vantrappen et al.
We report on a 1-year-old boy with Mandibulo-acral dysplasia, a rare autosomal recessive syndrome (MIM 248370). He presented at the age of 6 months with short stature, scarce brittle hair and thin skin mainly on the skull with visible veins...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(1):49-52. DOI: 2000