摘要:

AbstractThe deficiency of a lysosomal hydrolase usually results in the storage of its substrate(s) leading to various clinical abnormalities, typical for each deficiency. However, in certain lysosomal hydrolases, an apparent deficiency was noted which does not result in the classical clinical picture. This condition was described for aryl sulfatase A, β‐hexosaminidase, α‐galactosidase, and galactocerebrosi‐dase, where apparently healthy individuals showed in vitro very low hydrolase activity, usually indistinguishable from the affected patients. The deficiency was usually observed with both the synthetic and natural substrates. In the case of aryl sulfatase A deficiency, no clinical abnormalities were noted in these individuals, and cultured cells obtained from them were able to catabolize normally the natural substrate. Such cases are therefore referred as pseudodeficient. In other cases, such as in β‐hexosaminidase‐A deficiency, mild manifestations of the corresponding disorder were reported with subsequent intralysosomal storage of GM2gan‐glioside. Our analysis indicates that most of these cases represent a compound heterozygote for the deficient allele and another allele coding for an in vitro low enzyme activity (pseudodeficiency). A complete biochemical explanation for this phenomena is not yet established. The importance of understanding this condition(s) for proper genetic counselin

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140112

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractAmniotic bands can cause a wide variety of deformities and mutilations. They are generally considered sporadic. Two families are presented with apparent familial amniotic band anomalies. Additional cases in the literature are reviewed. These aggregations may be coincidental, and recurrence risk is apparently low. However, amniotic band malformations may be an indication for caution in the use of amniocentesis in future pregnancies.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140113

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractTwo members of a large family had a similar multiple congenital anomalies mental retardation (MCA/MR) syndrome and an identical aberration of chromosome 16. Their mothers, who are first cousins, had a different abnormality of one chromosome 16, which appeared to be an acrocentric. We interpret these findings as an insertion of a segment of 16p into 16q, following a three‐break rearrangement and meiotic crossing over. The two abnormal children have a duplication of 16p11→p13. The clinical manifestations of these patients differ from those of previously reported cases of dup(1

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140114

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140115

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs.Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present.Comparison with earlier described short‐rib/short‐rib‐polydactyly syndromes suggest that the disorder present in our two cases is a new type of short‐rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real‐time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short‐rib syndrome may be an autosomal recessi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140116

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe have assessed the sensitivity and specificity of tests to detect carriers of Duchenne muscular dystrophy by use of three serum enzymes (creatine kinase, pyruvate kinase, and aldolase) and discriminant analysis in 21 obligate heterozygotes and 28 normal controls. We found no significant age effects on enzyme levels. Each enzyme level considered separately was significantly higher in heterozygotes. Use of logs improved discrimination, and log CK was sufficient by itself as a discriminant (that is, addition of other enzymes did not significantly improve discrimination). We present procedures to generate posteriori probabilities for genetic counselling that incorporate prior probabilities and enzyme levels. Our results show both improved sensitivity (90%) and specificity (86%).

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140117

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractTwo unrelated children (one male, the other female) had unusual craniofacial anomalies consisting of hemangiomatous branchial clefts, lip pseudoclefts, and identical unusual facial appearance. One also had unilateral microphthalmia and both had congenital nasolacrimal duct obstruction. Two similar, sporadic cases from the literature were also identified. These four cases form the basis of a new, distinctly recognizable pattern of malformation.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140118

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractSisters with the Antley‐Bixler syndrome are reported herein. The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero‐radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations. Unlike two previously published cases, she did not have connatal fractures, but she had vaginal atresia. Ultrasound examination in a subsequent pregnancy showed immobility at the elbows of the fetus, humero‐radial synostosis, medial bowing of ulnae, and long hands and fingers. The fetus also had mild bowing of femora. The pregnancy was terminated in the 21st week and the findings were confirmed by clinical and radiologic examinations. Additional autopsy findings included cardiac and renal malformations. The Antley‐Bixler syndrome is a recognizable malformation syndrome with a probable autosomal recessive mode of inheritance, which can be diagnosed in the fetus by midtrimester ultrasound exam

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140119

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140120

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found.We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140121

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY