De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21 [0.03%]
新发的不平衡易位t（11q;21q）导致21pter-q22.2的部分单体和11q24-qter的初始诊断为21三体综合征的患者中的缺失
M Riegel,A Baumer,A Piram et al.
M Riegel et al.
We describe a patient in whom full monosomy 21 was initially assumed from routine GTG banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 11 and 21. Fluor...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):69-75. DOI: 2001
Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing [0.03%]
帕金森病年轻患者对可能的前症状和产前基因检测的态度
H Jacobs,U Latza,A Vieregge et al.
H Jacobs et al.
Objective: To evaluate the opinions and attitudes of young patients with Parkinson's disease (PD) towards possible presymptomatic and prenatal genetic testing for their illness. ...
F M Aynaci,O Aynaci,A Ahmetoğlu et al.
F M Aynaci et al.
We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias, inguinal hernia and cortical dysplasia in a consanguineous Turkish Family. Th...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):49-54. DOI: 2001
C Marcelis,C Schrander-Stumpel,J Engelen et al.
C Marcelis et al.
Wolf-Hirschhorn syndrome (WHS) or 4p-deletion syndrome has been extensively described in children. Knowledge on adult WHS patients is still limited due to the small number of published cases. We present 4 adults and review the literature. T...
M J Berends,G Tan-Sindhunata,B Leegte et al.
M J Berends et al.
Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. CES is cytogenetically characterised by the presence of an extra bisatellited m...
Sex chromosome pentasomy (49, XXXXY) presenting with generalized oedema and hypogenitalism at 12 weeks [0.03%]
性染色体五倍体（49，XXXXY）伴十二周出现全身水肿和性发育不良
I Witters,P H Moerman,P Braet et al.
I Witters et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):105-6. DOI: 2001
J P Fryns
J P Fryns
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(1):101-2. DOI: 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype [0.03%]
老年精神发育迟滞患者的代谢研究：代谢检查的意义及与临床表型的相关性
G J Van Buggenhout,J M Trijbels,R Wevers et al.
G J Van Buggenhout et al.
In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic...