摘要:

AbstractHypotrichosis of the scalp was found in 4 individuals of a 6‐generation Caucasian family. This congenital phenomenon is a rather rare subtype of hereditary hypotrichosis and affects only scalp hair. The hairs of the scalp were generally sparse and short vellus type from childhood and thinned progressively with age. Morphologic studies showed poor imbrication of cuticles and dysplastic bulbar structure of the anagen follicles. The density of hair follicles per/cm2area was comparatively lower than that of normal individuals. The genealogical study and histomorphometrical findings of this autosomal dominant trait are discussed along with previously reported causes of hypotrichosi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390202

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on a mother and son with a 3p25‐pter deletion. Both have postnatal growth retardation, mental retardation, apparently low‐set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p‐ patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the m

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390203

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

年代:1991

数据来源: WILEY

摘要:

AbstractAn apparently new X‐linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose‐6‐phosphate dehydrogenase va

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390204

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe have reinvestigated a classification of clinical heterogeneity among cystic fibrosis (CF) patients that we previously reported and investigated the possible relationship of the identified CF subgroups to haplotypes around the CF gene and to HLA‐DR haplotypes. Age‐corrected values for sweat electrolytes, rate of progression of lung disease as assessed by Brasfield chest x‐ray scores, and severity of pancreatic insufficiency as assessed by daily supplemented enzyme dosage were obtained for 55, 59, and 59 patients, respectively. XV‐2c and KM19 RFLPs were determined by hybridization toTaqIandPstIdigests of human genomic DNA, respectively, and analysis of mutations by PCR amplification followed by allele‐specific oligo‐deoxy‐nucleotide hybridization was performed for 29 patients. HLA‐DR restriction fragment length polymorphisms (RFLPs) were determined by hybridization of cDNA β1 and genomic DQα probes toTaqIdigests of human genomic DNA. The results show that the previous subdivision on the basis of age‐corrected levels of sweat electrolytes, as well as measures of severity of lung disease and pancreatic disease, is valid. In addition, the C and D haplotypes are associated with lower age‐corrected sweat sodium level. No significant relationship between CF haplotypes and the other two disease variables or between HLA‐DR haplotypes and any of the clini

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390205

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on two boys with the cardio‐facio‐cutaneous (CFC) syndrome, but without hyperkeratotic skin involvement. They showed most of the manifestations of the CFC syndrome: growth and developmental retardation, relative macrocephaly, distinct facial appearance, sparse hair, and heart defects. Their skin was not hyperkeratotic, but patient 1 had mild atopic dermatitis and keloid‐like depigmented

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390206

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

年代:1991

数据来源: WILEY

摘要:

AbstractA survival analysis regression model is described for analyzing twin data on the age‐at‐menarche. The model includes latent genetic and environmental covariates and allows one to test hypotheses regarding the nature of familial aggregation for age‐at‐onset. Additionally, the model accommodates a variety of baseline survival distributions and therefore may be used to test different developmental hypotheses. Model‐fitting results indicate that a survival model with a baseline gamma distribution gives an adequate fit to recalled age‐at‐menarche of 1,888 pairs of Australian female monozygotic and dizygotic twins. Further, results show that additive genetic and dominance genetic effects contribute to shared variation in age‐at‐menarche. If there are common environmental influences on the timing of menarche, they are completely obscured by nonadditivity in genetic factors, and information from other relationships would be required to de

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390207

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

年代:1991

数据来源: WILEY

摘要:

AbstractHere we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390208

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

年代:1991

数据来源: WILEY

摘要:

AbstractAs newer mathematical approaches are applied to the field of clinical genetics accurate methods of craniofacial measurement are increasingly necessary. If photogrammetric techniques are to be used certain theoretical and practical issues must be taken into account. Errors due to projection are particularly important, but systematic and random errors must also be considered. We discuss theoretical aspects of projection errors along with experimental measurements. Systematic errors in excess of 20% were found during simulations of typical clinical conditions, although smaller errors were obtained using techniques practical in a clinical setting. Photogrammetric measurements are potentially valuable in the field of clinical genetics but must be used cautiously.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390209

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

年代:1991

数据来源: WILEY

摘要:

AbstractX‐linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X‐linked congenital nystagmus with an affected woman. She was a (46,XX/45,X) mosaic. Magnetic resonance images of the brain of affected individuals were nor

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390210

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report a 3½‐year‐old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperf

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390211

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

年代:1991

数据来源: WILEY