ISSN:0148-7299    

DOI:10.1002/ajmg.1320150202

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

年代:1983

数据来源: WILEY

摘要:

AbstractBecause of its association with longevity and reduced incidence of coronary heart disease, it becomes important to find out how elevated HDL‐cholesterol levels are determined. Analyses of family data from Cincinnati initially suggested environmental factors common to sibs; however, some form of dominant inheritance could not be ruled out. Reanalysis of the Cincinnati data by Iselius and Lalouel concluded against a major locus, but did identify three families as possibly segregating for a major locus. Analysis of an additional 26 kindreds from the same population in Cincinnati by Siervogel and associates concluded that a major gene could be causing familial aggregation of high density lipoprotein in white kindreds. In this analysis, we pooled all the white Cincinnati kindreds (n = 31), and investigated the familial transmission using complex segregation analysis. We failed to obtain clear evidence for major locus determination. Under the parsimonious hypothesis of no major locus, the polygenic heritability and common sibling environmental correlation were estimated as 0.531 and 0.263, respectively, consistent with other evidenc

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150203

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on a previously apparently undescribed Puretic syndrome‐like self‐limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs. Affected hands and feet acquire a pseudoacromegalic appearance; fingers become clawed; involvement of growth plates around knees may lead to asymmetrical shortness with secondary scoliosis.Slow but normal healing during and after the course of the disease leaves severe cicatrization and chronic arthroses. No other organ system is involved, intellect is normal, and health and reproductive capacity are otherwise unimpaired. We propose the name Kirghizian dermatoosteolysis for this condit

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150204

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe have analyzed chromosome breaks in 8 patients with Fanconi anemia (FA), 42 with “idiopathic” aplastic anema (AA), 15 first‐degree relatives of FA patients, and 13 controls. Their lymphocytes were treated in culture with three concentrations of mitomycin‐C (MMC). A 60‐fold increase in breaks was observed in FA patients as compared to AA patients, regardless of severity of clinical signs. The MMC‐stress test was standardized to clearly differentiate FA from other pancytopenias in doubtful cases. Also, the effect of storage of MMC in solution was investigated. The data on SCEs of 12 subjects tested, 10 mo apart, showed an inverse relationship between length of storage of MMC and chromosome damage. The 10‐month‐old solution induced only one half as many SCEs as it induced at 4 months.Further, the usefulness and power of diepoxybutane (DEB) in detection of FA heterozygotes was investigated in 12 first‐degree relatives of patients with Fanconi anemia and 12 healthy controls. The mean number of chromosome breaks per mitosis by DEB stress in obligate heterozygotes was 0.08 in comparison to 0.06 in controls. Four of twelve control subjects showed proportions of breaks almost identical to or higher than those of FA heterozygotes, ie, 0.12, 0.10, 0.10, and 0.11 breaks per mitosis. The responses of healthy controls to DEB could be separated into two groups: one with mean chromosome breaks of 0.11 per mitosis, and a second with mean breaks of 0.04 per mitosis. Thus, it appears that heterozygote detection by DEB stress of cultured lymphocytes i

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150205

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe the clinical and hematological findings in a 5‐year‐old boy with Gγ Aγ δβ thalassemia, a Gγ Aγ heterocellular form of HPFH, βº thalassemia, and albinism. Clinically he manifested only the characteristics of β‐thalassemia trait and not the typical picture of doubly heterozygous β thal/δβ thal. The simultaneous presence of heterocellular HPFH improves γ chain synthesis, thus reducing the α chain excess. It is also possible that gene expression can be modified by the presence of othe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150206

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

年代:1983

数据来源: WILEY

摘要:

AbstractEar malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations have been described. We have studied propositi with hemifacial microsomia (HFM) or Goldenhar syndrome (GS), also called oculoauriculovertebral “dysplasia” (OAV). In addition to ear malformations some individuals may have a small and/or malformed mandible, epibulbar, or conjunctival lipodermoids and anomalies of the cervical spine. Other malformations may also be seen. At present, the cause of these disorders is unclear.Here we present pedigree data on 97 propositi, 44 of whom had a family history of the same or similar anomaly. First‐degree relatives were most often affected (35/433, 8%). Of 176 sibs tabulated, 11 (6%) were considered affected. The pattern of occurrence in many families suggested multifactorial determination, although other interpretations are possible. The occurrence of differing anomalies within a family suggests that the disorders constitute a single entity. The most frequent anomaly was a mild ear malformation (preauricular node or tag). This suggests a broad phenotypic spectrum. These data are useful for purposes of genetic couns

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150207

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

年代:1983

数据来源: WILEY

摘要:

AbstractAcrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150208

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

年代:1983

数据来源: WILEY

摘要:

AbstractSome variation in the phenotype of patients with dup(18q) is recognized. Our patient has the phenotype described for dup(18qter).

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150209

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

年代:1983

数据来源: WILEY

摘要:

AbstractTwo children of second‐cousin parents were found to have a very mild form of Morquio syndrome. The 14‐year‐old boy was 147 cm tall and had fine corneal deposits, a broad chest, dislocated hips, and flat feet. His 7‐year‐old sister had a broad chest but otherwise normal physical development. An abnormal lumbar spine was seen in radiographs of both children. Analysis of the urine from the affected children showed levels of acid mucopolysaccharides (AMPS) up to twice as high as that found in normal urine, but no evidence of keratosulfaturia. Most urinary AMPS was chondroitin‐6‐sulfate. Multiple assays of N‐acetylgalactos‐amine‐6‐sulfate (GalNAc‐6‐SO4) sulfatase in leukocytes and cultured skin fibroblasts showed deficiency of this enzyme in the range found in the classical form of Morquio (Morquio A) syndrome. This report identifies an enzymatic defect in one form of non‐keratan‐sulfate‐excreting Morquio (NKSE Morquio) syndrome and confirms the absence of keratosulfaturia in th

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150210

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

年代:1983

数据来源: WILEY

摘要:

AbstractIn this field of enquiry, “homeostasis” is understood in the sense of Bernard, Cannon, and Wiener, that is, with the system of continuous adjustments, in a trait not inherently stable, to meet the challenges of the environment. It is shown that the clinical fitness of a trait may depend on factors other than the mean or the variance. In particular the broad pattern of variation of the phenotype may be of importance and hence the characteristics of the homeostatic mechanisms for the control of traits subject to variation: notably the homing value (the “setting” of the homeostat), and the strength with which the organism responds to departures from this value. These parameters are related, but perhaps only remotely, to the traditional notion of the value of a phenotype. In general, where the environmental value is variable, there exist circumstances in which the optimal control would be neither extremely tight nor extremely loose. For instance, anticipatory action on the part of the body may be vitiated by too tight a control. Some illustrations are given of genetic disorders in which there is a fault in the strength of control. While neither the pattern of inheritance nor the impact on the species is explored in detail, the broad implications are indicated. Compromise adjustments are explored where two or more traits are regulated through the same homeostatic

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150211

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

年代:1983

数据来源: WILEY