A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics [0.03%]
一位具有特殊面部畸形、关节松弛、指侧弯及异常皮肤纹理的轻度智力障碍女性病例报告
P Franceschini,A Guala,D Besana et al.
P Franceschini et al.
We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral...
Case Reports
Genetic counseling (Geneva, Switzerland). 2002;13(1):55-8. DOI: 2002
Y C M Duijvestijn,J M Cobben,B Leegte et al.
Y C M Duijvestijn et al.
A family with primary infertility and two members with mental retardation and subtle facial dysmorphism is described. In the two retarded persons chromosomal rearrangements (partial monosomy of chromosome 5 and partial trisomy of chromosome...
Case Reports
Genetic counseling (Geneva, Switzerland). 2002;13(1):49-54. DOI: 2002
Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature [0.03%]
染色体9短臂三体综合症的两兄弟病例报告及相关文献复习
S Hacihanefioğlu,G S Güven,A Deviren et al.
S Hacihanefioğlu et al.
We report an eleven years old boy and his fourteen years old brother who both have trisomy 9p syndrome. Their cytogenetic analysis using GTL-banding showed 46,XY,der(22)add(22)(p11) karyotype. Cytogenetic analysis of their mother and sister...
H Yapicioğlu,N Narli,M Satar et al.
H Yapicioğlu et al.
Sternal malformation/vascular dysplasia complex was described by Hersch et al. in 1985. The principle findings include cleft of the sternum covered by an atrophic skin, a midline abdominal raphe and hemangiomatosis. The inheritance pattern ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2002;13(1):35-9. DOI: 2002
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region [0.03%]
包括狼-希里施霍恩关键区的4号染色体短臂部分重复综合征的轻表型患者一例
M Tschernigg,E Petek,K Wagner et al.
M Tschernigg et al.
Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of prev...
Case Reports
Genetic counseling (Geneva, Switzerland). 2002;13(1):29-33. DOI: 2002
A Ozkilic,M Seven,A Yuksel
A Ozkilic
Acampomelic campomelic dysplasia is a rare variant of campomelic dysplasia syndrome affecting bone and connecting tissue. This syndrome is implicated by the absence of bowed limbs. Affected children have a characteristically smooth facial p...
Case Reports
Genetic counseling (Geneva, Switzerland). 2002;13(1):23-8. DOI: 2002
Cleft lip and/or palate in two cases of 46,X,i(Xq) Turner syndrome [0.03%]
46,X,i(Xq)唐氏综合征两例合并唇腭裂畸形报告
J R Corona-Rivera,E Corona-Rivera,L Bobadilla-Morales et al.
J R Corona-Rivera et al.
Cleft lip (CL) and/or palate (CP) are uncommon anomalies in Turner syndrome (TS) series. We report two unrelated sporadic 46,X,i(Xq) patients exhibiting orofacial clefts and a peculiar facial appearance masking the clinical diagnosis. CL, a...
Case Reports
Genetic counseling (Geneva, Switzerland). 2002;13(1):19-22. DOI: 2002
Reliability and efficiency of interphase-fish with alpha-satellite probe for detection of aneuploidy [0.03%]
基于Alpha卫星DNA探针的间期鱼法检测染色体非整倍体的可靠性及可行性研究
H Acar,M S Yildirim,M Kaynak
H Acar
Early diagnosis is very important in pre- and postnatal diagnosis of Down syndrome. This study examines the use of fluorescence in situ hybridization (FISH) to detect trisomy 21 in interphase nuclei and metaphase chromosome obtained from fi...
Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient [0.03%]
7号染色体远端部分重复和顶端缺失的着丝粒易位的一个病例分析（FISH及细胞遗传学诊断）
T Lukusa,G Van Buggenhout,K Devriendt et al.
T Lukusa et al.
We report on a 29-year-old male patient with an inverted 7(q35-qter) duplication diagnosed by combining cytogenetic and FISH studies. Traditional G-banding detected an abnormally long chromosome 7 which was further demonstrated to be entire...
Choroid plexus cysts and oligohydramnios: presenting echographic signs in a female fetus with deletion of the Wolf-Hirschhorn syndrome region (4p16.3) [0.03%]
视网膜脉络膜囊肿和低羊水：Wolf-Hirschhorn综合症(4p16.3)区域缺失女胎的超声表现
I Witters,D Van Schoubroeck,J P Fryns
I Witters
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):387-8. DOI: 2001