MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients [0.03%]
两例不相关的女患者MRCA/MR候诊间综合征的严重宫内和产后生长迟缓、深度精神发育迟滞、以鼻发育不良为特征的面部畸形、腭裂以及视网膜脉络膜裂缺病症
J P Fryns
J P Fryns
We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniof...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):399-402. DOI: 2000
Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome [0.03%]
小头畸形、小眼症、先天性白内障伴基底节钙化综合征（MCA/MR 综合征）
G M Abdel-Salam,A Svékus,Z Pelle et al.
G M Abdel-Salam et al.
We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the co...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):391-7. DOI: 2000
K Sarimski
K Sarimski
Developmental and behavioural phenotype in Noonan syndrome? Noonan syndrome is characteristic by facial dysmorphology, congenital heart defects, short stature, developmental retardation and severe early feeding disorders in many cases. Data...
L De Smet
L De Smet
The author presents a case of avascular necrosis of the lunate bone of the carpus in a 38-years-old female with pseudopseudohypoparathyroidism. The concurrence of these 2 conditions was not been reported so far.
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):379-81. DOI: 2000
Cytomegalovirus reactivation in pregnancy and subsequent isolated bilateral hearing loss in the infant [0.03%]
孕妇巨细胞病毒再活化与婴儿继发性双侧听力损失的关系研究
I Witters,M Van Ranst,J P Fryns
I Witters
Cytomegalovirus (CMV) is a frequent cause of congenital infections in humans occurring in 0.4 to 2.3% of life births. Although preexisting maternal antibodies are generally protective, transplacental transmission of CMV during pregnancy may...
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications [0.03%]
三个成人天使人综合症患者伴有非典型表现和严重的神经并发症
G J Van Buggenhout,M J Descheemaeker,P Thiry et al.
G J Van Buggenhout et al.
Angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather as...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):363-73. DOI: 2000
Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation [0.03%]
一例由于10号染色体与20号染色体家族性易位所导致的10q部分三体现症患者报告
B Tüysüz,S Hacihanefioglu,A Silahtaroglu et al.
B Tüysüz et al.
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):355-61. DOI: 2000
Y H Arens,A Toutain,J J Engelen et al.
Y H Arens et al.
Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation c...
14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies [0.03%]
14q末端缺失：一例严重先天畸形的产前诊断
D J Mertens,C E De Die-Smulders,P H Kampschöer et al.
D J Mertens et al.
A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus ma...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):341-6. DOI: 2000
An adult patient with a distal interstitial 14q deletion: clinical report and literature review [0.03%]
14号染色体远端中间片段缺失患者的临床报道及文献复习
L Spruijt,M Van Der Blij-Philipsen,J J Engelen et al.
L Spruijt et al.
We report a patient with an interstitial 14q32.1-->q32.3 deletion and review the literature. The adult patient presented with moderate mental retardation, a friendly behavior and a non-specific phenotype. The deletion seemed to be terminal ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(4):335-40. DOI: 2000