ISSN:0148-7299    

DOI:10.1002/ajmg.1320140202

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report four patients with Nager acrofacial dysostosis (AFD) syndrome and review all previous cases. This leads to an extended characterization of the Nager syndrome—eg, description of lower limb defects—and also to a discussion of the differential diagnosis which includes AFD postaxial defect syndrome, Fontaine syndrome, distal 2q duplication syndrome, hemifacial microsomia/Goldenhar radial defect syndrome, and some oth

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140203

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe two daughters of a nonconsanguineous couple. Both had facial and skeletal anomalies, but in quantitatively and qualitatively different ways. In one patient signs of mandibulofacial dysostosis are associated with anomalies of the radial rays of both arms. In the other, cleft lip and cleft palate are associated with hypoplastic thumbs. Clinical and genetical aspects of present case are discussed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140204

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

年代:1983

数据来源: WILEY

摘要:

AbstractThe story of the Klein‐Waardenburg syndrome begins with the presentation before the Swiss Society of Genetics in Geneva in August 1947 of a 10‐year‐old girl, who showed, in addition to deafmutism, partial albinism of the hair and over the whole body, dystopia canthorum, blue hypoplastic irides, broad and prominent nasal root, absence of the frontonasal angle, and blepharophimosis. Waardenburg, impressed by the complex clinical picture of our proposita whom he saw in Geneva in 1948, subsequently undertook a systematic investigation in several Dutch institutions for the deaf. He was able to confirm from his study that several manifestations of our patient, principally the palpebro‐irido‐auditory complex, represented a well‐defined syndrome transmitted as a dominant trait with variable penetrance and expressivity. Since arthromyodysplasia did not figure among the clinical signs of his patients, Waardenburg suggested at first the possibility of either a homozygous state of the same mutation or the effect of a different allele as the cause of the accompanying gross skeletal and muscular defects. However, later on he completely questioned the nosologic placement of our case within the framework of his syndrome, having never encountered such extensive bone anomalies in more than one hundred observations.Meanwhile four other cases with similar hypoplastic upper limb anomalies have been recorded and show an astonishing degree of resemblance to our original proposita with regard to specific bone alterations and their location. However, until recently there were still no observations concerning the inheritance of this complex syndrome.The follow‐up examination of a French family where the father manifested the complete Klein‐Waardenburg syndrome including muscular and skeletal defects of the upper limbs, and his 12‐year‐old son who had apparently a typical Waardenburg syndrome (but with Sprengel deformity), enabled for the first time the postulation of a common genetic basis for both types with an autosomal‐dominant inheritance of incomplete penetrance and variable expressivity. Further investigations are however needed before this type of inheritance can be considered as firmly established for the Klein

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140205

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

年代:1983

数据来源: WILEY

摘要:

AbstractA major question in human genetics concerns the relationship between the extra chromosome material in the Down syndrome (DS) and its effects. It is suggested here that a generalized disruption of evolved genetic balance in cells of affected individuals leads to decreased developmental and physiological buffering against genetic and environmental forces. Examples of consequences in DS of this model of disruption of homeostasis are presented: (i) increased variance for metric traits, (ii) amplified instability of developmental pathways, (iii) reduced precision of physiological homeostatic controls, and (iv) generalized increased morbidity. Evolution has selected for interacting systems. When this evolved balance is disrupted, as in autosomal aneuploidy, the organism is generally disrupted. The model emphasizes the role of environment in producing much of the DS phenotype. Traits less buffered than others in the general population are the ones most disturbed in DS and account for much of the DS phenotype.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140206

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.1320140207

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.1320140208

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

年代:1983

数据来源: WILEY

摘要:

AbstractBlood group frequencies, immunoglobulin allotypes, and dermatoglyphic patterns were determined on patients with amyotrophic lateral sclerosis (ALS) and parkinsonism‐dementia (PD), two chronic, degenerative, neurologic disorders of unknown cause found commonly among the Chamorros of the Mariana Islands, in an attempt to identify a specific genetic or phenetic marker associated with either disorder. With the exception of the Kidd system, no significant differences were found in blood group frequencies nor in immunoglobulin allotypes between ALS patients, PD patients, and unaffected controls. The dermatoglyphic analysis demonstrated that ALS patients had higher frequencies of palmar patterns and accessory triradii in the IV interdigital area, and PD patients had significantly higher frequencies of complete simian creases and of palmar patterns in the thenar/I interdigital area than unaffected controls. The frequencies of the remaining dermatoglyphic traits showed no significant differences. We conclude that none of the marker systems tested show a particular pattern of association in patients and controls or a genetic predisposition to either disorder, and that early identification of at‐risk individuals remains elus

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140209

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

年代:1983

数据来源: WILEY

摘要:

AbstractFrequency distributions were determined for 24 red cell enzyme and four serum protein systems, in an attempt to identify a genetic marker associated with either amyotrophic lateral sclerosis (ALS) or parkinsonism‐dementia (PD), two progressive and fatal neurological disorders of unknown cause found with unusually high incidence among the Chamorros of Guam and the Northern Mariana Islands. No striking associations were identified between either disorder and any of the gene markers tested. Thus, no genetic cause is known for either disease; local environmental factors are most likely involved in pathogenesi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140210

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a boy with a ring chromosome 15, showing the manifestations characteristic of this condition, ie, growth deficiency and unusual facial appearance with minor anomalies. The ring was derived from a t(15q;15q) chromosome of the mother, who had also had four spontaneous abortions. The respective karyotypes were 45, XX, −15, −15, +t(15q;15q) (mother) and 46,XY, − 15, + r(15q;15q)mat (15q13 → cen → 15q26)(son). The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen → q13. Data from enzyme assays suggest that this duplicated region carries the α‐ma

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140211

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

年代:1983

数据来源: WILEY