T J De Ravel,E Deckers,P L Alliet et al.
T J De Ravel et al.
The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heter...
An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters [0.03%]
Brachmann-de Lange综合征的7例分析(包括一对双胞胎姐妹)
H Caksen,S Kurtoğlu,Y Cesur et al.
H Caksen et al.
An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachyce...
H Caksen,S Kurtoğlu
H Caksen
Larsen syndrome associated with severe congenital hydrocephalus: Larsen syndrome (LS) is characterized by the association of flattened facies with a prominent forehead, a depressed nasal bridge and hypertelorism, dislocation of hips, elbows...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):369-72. DOI: 2001
M G Dominguez,H Rivera,A I Vasquez et al.
M G Dominguez et al.
Interchange trisomy 21 by t(1:21)(p22:q22)mat: Interchange trisomy 21 by t(1;21)(p22;q22)mat was identified in a sporadic patient with Down syndrome. With a 21q22 specific probe, we observed signals on both normal 21 chromosomes and on the ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):363-7. DOI: 2001
M Gutiérrez-Angulo,A I Vásquez,A L Ramos et al.
M Gutiérrez-Angulo et al.
In search of a 9q13 latent centromere in 9qh polymorphic inversions: The presence of alphoid sequences in 9q13 has prompted the suggestion that such a region could harbor a latent centromere which under certain circumstances may appear as a...
P Debeer,L De Smet,J P Fryns
P Debeer
Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of brachydactyly type C. The observation of 'skipp...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):353-8. DOI: 2001
L De Smet,W Schollen
L De Smet
Hypoglossia-hypodactyly syndrome: report of 2 patients: Two newborns with severe limb deformities and hypoglossia, with micro- and retrognathia are reported. The first patient had a transverse agenesia just below the knee of both legs and b...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):347-52. DOI: 2001
Report of two cases with Van der Woude syndrome: a child and her mother [0.03%]
两例外祖母-母亲-女儿三代先天性下唇囊肿舌缺损畸形综合征患者报告
U Koçer,H M Aksoy,Y O Tiftikcioğlu et al.
U Koçer et al.
Report of two cases with Van der Woude syndrome: a child and her mother: Congenital pits of the lower lip are rare malformations. They are closely associated with cleft lip (CL), cleft lip/palate (CL/CP) or isolated cleft palate (CP) and if...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):341-6. DOI: 2001
The 4q-Syndrome [0.03%]
4q-综合征
E M Strehle,O A Ahmed,M Hameed et al.
E M Strehle et al.
The 4q-Syndrome: Here we report four cases of interstitial and terminal deletions of the long arm of chromosome 4. Case 1 is a 16 month old boy with del(4)(q12q21) who has soft dysmorphic features, tetralogy of Fallot, and severe developmen...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):327-39. DOI: 2001
Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies [0.03%]
一名伴有多种先天畸形患儿的不平衡易位t(4;15)的FISH检测
F Celep,H Acar,O Aynaci et al.
F Celep et al.
Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a 6-month-old male with multiple congenital anomalies, developmental delay, and an ini...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(4):319-26. DOI: 2001