Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22 [0.03%]
进行性肌肉骨骼化病(FOP)基因定位在染色体17q21-22区域
G Lucotte,C Bathelier,G Mercier et al.
G Lucotte et al.
Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of muscles. To identify the chromosomal localization of the FOP gene, we ...
Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy [0.03%]
儿童肌强直性营养不良的情绪和行为特征及儿童精神科诊断
E Goossens,J Steyaert,C De Die-Smulders et al.
E Goossens et al.
We report data on behaviour and possibly associated psychopathology in 24 children and adolescents between 9 and 22 years of age, with the childhood type of myotonic dystrophy. The patients were recruited through a patients association, as ...
Penile agenesis as an isolated malformation: a rare example of sexual ambiguity at birth [0.03%]
原发性阴茎缺如症是一例出生时性发育异常的罕见病例
J P Fryns
J P Fryns
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):279-80. DOI: 2000
Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM *250250) [0.03%]
软骨-毛发发育不良症（ McKusick型，MIM * 250250）合并门静脉血栓的脾功能亢进及门脉高压症
J P Fryns
J P Fryns
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):277-8. DOI: 2000
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome [0.03%]
听性脑病和耳上部多次出现皮肤缺陷：分支耳眼面部综合征的一个变异型病例报告
G Vantrappen,L Feenstra,J P Fryns
G Vantrappen
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial Syndrome: We describe a 3-year-old girl with bilateral severe conductive hearing loss and multiple bilateral supra- a...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):273-6. DOI: 2000
A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes [0.03%]
47,XXY,del(11)(q23)染色体异常的临床表现(Jacobsen和Klinefelter综合征并存)病例报告
A Matheisel,M Babinska,J Wierzba et al.
A Matheisel et al.
A case with 47,XXY, del(11)(q23) karyotype-coexistence of Jacobsen and Klinefelter syndromes: A two-year-old dysmorphic male child was found to have 47,XXY,del(11)(q23) karyotype. Domination of the clinical features of Jacobsen syndrome was...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):267-71. DOI: 2000
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient [0.03%]
线粒体基因组和核基因组异常导致的女性梅勒斯综合症病例报告
I Lorda-Sanchez,P J Garcia-Ruiz,M Rodriguez de Alba et al.
I Lorda-Sanchez et al.
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient: We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRN...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):261-5. DOI: 2000
Two sibs with duplication of 4q31-->qter due to 3:1 meiotic disjunction and mild phenotype [0.03%]
由于减数分裂不分离导致的4q31-qter重复综合征伴有轻微临床症状的两兄妹
L M Moreira,M Riegel
L M Moreira
Two sibs with duplication of 4q31-->qter due to 3:1 meiotic disjunction and mild phenotype: Clinical and cytogenetic findings in two sibs with partial duplication of 4q31.3-->qter and 21q11.2-->pter are reported. These patients are rare cas...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):249-59. DOI: 2000
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p [0.03%]
胎产前诊断中一种不稳定的近端短臂染色体异常：不是14号染色体多态，而是17p三体性
J M De Pater,J P Van Tintelen,R Stigter et al.
J M De Pater et al.
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: We report on a girl with multiple congenital abnormalities and a prenatally diagnosed 46,XX,14p+ de novo karyotype. Fluorescence in situ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2000;11(3):241-7. DOI: 2000
Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome [0.03%]
涉及染色体9的家族性相互平衡易位携带者的生殖随访及其与预期结果的比较
P Castorina,O Rodeschini,G Nocera et al.
P Castorina et al.
Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome: Chromosome 9 is commonly implicated in reciprocal translocations (rcp). Twenty-seven families se...
Comparative Study
Genetic counseling (Geneva, Switzerland). 2000;11(3):229-39. DOI: 2000