摘要:

Sclerosteosis is a rare, potentially lethal skeletal disorder in which massive bony overgrowth leads to facial distortion, cranial nerve compression and progressive rise in intra‐cranial pressure. Gigantism and syndactyly of the 2nd and 3rd fingers are associated features. In a nationwide investigation in South Africa, 25 affected individuals in 15 Afrikaner kindreds have been studied. The minimum prevalence of the condition in this community is 1 in 75,000. Analysis of pedigree data confirms that sclerosteosis is an autosomal recessive condition. The gene frequency in the Afrikaner people is estimated at 0.0035, with 10,000 clinically normal heterozygotes in this population. Heterozygote detection may be possible on a basis of recognition of minor changes which are apparent on skull radiograph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01269.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

An abnormal chromosome No. 2 was found in the case of a child with an imperforate anus, a recto‐vaginal fistula, unilateral atresia of the inner canal, and deformity of the external ear. G‐banding studies revealed an insertion of a segment of the short arm into the long arm in one of the chromosomes No. 2 of the proband, the apparent result of ade novophenomenon of chromosome rearrangem

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01270.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A syndrome of congenital and permanent universal alopecia, involving absence of scalp hair, eyebrows, eyelashes, axillary and pubic hair, and the rest of the body hair is reported. Mental subnormality was noted in eight and psychomotor epilepsy in seven out of 12 affected individuals. Pyorrhea was observed in all ascertained patients. No abnormality of nails or skin (apart from absence of hair) was noted.The disorder, which affected seven females and five males from six sibships, was transmitted through four generations. Utilizing the simple sib method, a ratio of 6/12 was obtained for affected individuals. The vertical transmission of the disorder, implication of both sexes, male to male transmission, and the 1:1 (affected: unaffected) segregation ratio support autosomal dominant inheritance. Penetrance appears to be complete.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01271.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The outcome of 78 pregnancies, monitored by second trimester amniocentesis for prevention of genetic disease, and the outcome of an equal number of matched controls are reported. The controls were selected from the same obstetrical department, among the same population, and were matched for age, number of previous children, abortions and stillbirths. No significant difference was found in Apgar score, birth‐weight and length, duration of pregnancy, placenta condition or malformatio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01272.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A salt‐wasting syndrome associated with high plasma renin activity and inappropriately low aldosterone levels was observed among eight Jewish families from Iran. Aldosterone deficiency was due to an inborn error selectively involving the terminal portion of the biosynthetic pathway and characterized by an enzymic block in the conversion of 18‐hydroxycorticosterone to aldosterone. The analysis of the eight pedigrees, including 12 affected children, shows a high coefficient of inbreeding. Genetic analysis, by two independent methods, strongly suggests an autosomal recessive mode of transmission of the syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01273.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

An estimate is derived of the mutation rate of achondroplasia, based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in all but one. From this, the rate of mutation of the normal to the achondroplasia allele is calculated to be 1.4 × 10‐‐5± standard error 0.5 × 10‐‐5. Certain shortcomings of this estimate are

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01274.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A case of partial 7q trisorny is reported, resulting from a maternal translocation t(7;9) (q31;p24). The phenotypic expression of the 7q trisomies is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01275.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A group of 102 obligate heterozygotes for the cystic fibrosis gene were examined for genetic type of pancreatic isoamylases as well as enzyme activity of pancreatic isoamylases, salivary isoamylases and total amylase in serum. The analysis was performed using electrophoretic separation for detection of the various types of isoamylases, and their relative activity was determined by means of densitometry. The activities of salivary isoamylases and total amylase in serum showed no significant differences between the cystic fibrosis heterozygotes and a control group. The frequency of the variant gene for pancreatic isoamylase was also the same as in the controls. The mean value for pancreatic isoamylase was slightly higher in the cystic fibrosis heterozygotes than in the control group (0.05>P>0.02).There was no correlation between pancreatic isoamylase values and the three types of cystic fibrosis on the basis of metachromatic staining of cultured fibroblasts.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01276.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A profoundly retarded, 12‐year‐old female is described. Her phenotype is compatible with the clinical features of the trisomy 9p syndrome. Cytogenetic analyses showed her to be trisomic for 9pter→9q22 and monosomic for 13pter→13q12, as the result of adjacent‐2 segregation during meiosis in her mother. The family pedigree shows this (9;13) translocation to be present in at least three ge

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01277.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Two second cousins with infantile polymyoclonus are described. All other published cases in the literature are sporadic, and the occurrence of two cases of this exceedingly rare disorder in one family raises the possibility of genetic transmission. Careful examination of the family pedigree is indicated in this disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01278.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY