Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age [0.03%]
22q11缺失儿童与言语语言障碍和学习困难的同龄人相比在小学期间的行为表现
A Swillen,K Devriendt,P Ghesquière et al.
A Swillen et al.
Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age: Common behavioral features described in children with the Velo-Cardio-Facial syndrome (VCFS) (del ...
Comparative Study
Genetic counseling (Geneva, Switzerland). 2001;12(4):309-17. DOI: 2001
A Paoloni-Giacobino
A Paoloni-Giacobino
Cleft hand between the ring and small finger associated with thumb hypoplasia: a casus [0.03%]
环指和小指之间的先天性中央分裂手伴大拇指发育不全：一例报告
J Van Cauwelaert De Wyels,L De Smet
J Van Cauwelaert De Wyels
Clefts between the 4th and 5th finger are rare. We report a case in which also the thumb was hypoplastic.
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):299-301. DOI: 2001
U Moog,C E De Die-Smulders,C T Schrander-Stumpel et al.
U Moog et al.
Holoprosencephaly (HPE) is a developmental field defect with impaired cleavage of the embryonic forebrain as the cardinal feature. The prevalence is about 1 in 11.000-20.000 in live births and 1 in 250 during embryogenesis. In most cases, c...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):287-98. DOI: 2001
S Puvabanditsin,E Garrow,M O Zia-Ullah et al.
S Puvabanditsin et al.
We present a case of new phenotypic findings not previously reported associated with a partial deletion of chromosome 11 with a break point at 23q - (46,XY,del(11)(q23). Partial deletion of chromosome 11q was first described by Jacobsen et ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):283-6. DOI: 2001
Phenotypic variability of the cat eye syndrome. Case report and review of the literature [0.03%]
猫眼综合征的表型变异。病例报告和文献复习
P R Rosias,J M Sijstermans,P M Theunissen et al.
P R Rosias et al.
We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with...
Balanced reciprocal translocation mosaicism: clinical implications. Two new cases [0.03%]
平衡的互惠易位镶嵌体：临床意义。两个新的病例
M T Vargas,M C Fernández-Novoa
M T Vargas
Two new cases of balanced reciprocal translocation mosaicism (BRTM) are described, one with early miscarriages and a polymalformed child and the second showing an abnormal phenotype resembling the three cases previously reported in literatu...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):269-71. DOI: 2001
Y H Gulcan,N Duman,A Kumral et al.
Y H Gulcan et al.
Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebroren...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):263-7. DOI: 2001
G Bağci,H Acar,H Tomruk
G Bağci
A 17-year-old phenotypically female girl was referred for evaluation because of short stature and primary amenorrhea. Cytogenetic analysis showed a mosaic 46,XY/45,X/47,XYY/46,X,idic(Yq)/47,XY,idic(Yq)/48,XXY,idic(Yq)/46,X,t(C;Y) karyotype....
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):255-61. DOI: 2001
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father [0.03%]
裂手裂足综合征生殖系嵌合体的进一步证据：两个受影响的外甥女和正常的父亲
L De Smet,K Devriendt,J P Fryns
L De Smet
In this report we present two halfsisters with typical cleft hand/cleft foot syndrome. Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant cond...
Case Reports
Genetic counseling (Geneva, Switzerland). 2001;12(3):251-4. DOI: 2001