ISSN:0148-7299    

DOI:10.1002/ajmg.1320060202

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

年代:1980

数据来源: WILEY

摘要:

AbstractCartilage growth factor (CGF) stimulates the growth of primary and secondary cultures of human amniotic fluid cells. Over a 14–16‐day period there is an approximately 70% enhancement in the number of cells in primary cultures and a 170% increase in secondary cultures. Neither the karyotype nor the specific activities of lysosomal enzymes are altered by the presence of CGF in the med

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060203

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

年代:1980

数据来源: WILEY

摘要:

AbstractTwo brothers with hallux varus of both feet are reported. One brother also had duplication/triplication of the great toes. The parents had no skeletal abnormalities or abnormalities of dermatoglyphics.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060204

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

年代:1980

数据来源: WILEY

摘要:

AbstractCausal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X‐linked inheritanc

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060205

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

年代:1980

数据来源: WILEY

摘要:

AbstractA patient was observed with female pseudohermaphroditism (FPH) and the “Prune Belly Syndrome” (PBS) – abdominal muscle hypoplasia and urinary tract abnormalities – findings seen in three previously reported cases. A review of cases of FPH with additional anomalies suggests a spectrum of primary, and possibly derived, malformations with Prune Belly Syndrome at one extreme.These findings can best be understood as disturbance of a specific embryological developmental field of which FPH is a marker, although not an invariable expression. The field includes anorectal, urogenital, sacral‐spinal, and ventral wall structures. FPH is a rare manifestation, and the cases reviewed suggest that it can appear as a developmental anomaly without apparent hormonal trigger.Malformations of this field are understandable on the basis of a multifactorial model, with male sex as a predisposing factor. The caudal defects of the cryptophthalmos syndrome offer a paradigm for a spectrum of field

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060206

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

年代:1980

数据来源: WILEY

摘要:

AbstractIn recent years, cytogenetic studies of spontaneous abortion products have disclosed a relatively high frequency of aneuploid embryos. These karyotypic anomalies chiefly stem from meiotic errors affecting the distribution of the chromosomes in one of the two gametes. This information not only implies the remarkable frequency of gonocyte aneuploidy but also reveals the prevalence of certain types of errors. It follows that gametal haploidy is often altered by the loss (nullisomy) or the addition (disomy) of certain members, in particular the X, the Y, and chromosomes 15, 16, 21, and 22.Therefore, it is to be expected that, in some exceptional zygotes, euploidy could result from the random union of a disomic gamete with a gamete nullisomic for the homologue. To this hypothetical phenomenon ‐ which is, however, statistically likely and foreseeable ‐ we have ascribed the name ofuniparental disomy, owing to the fact that both members of such a pair arise from only one parent. Furthermore, such a mechanism implies the probability of introducing into the genome pairs of chromosomes with whole sequences of identical alleles, a consequence which we describe by the neologism ofisodisomy. Such homozygosity for a series of colinear alleles implies, from the genetic stand‐point, risks and advantages akin to those of parental consanguinity.An analogous mechanism could also modulate and modify the consequences of trisomies in which entire segments of two of the three implicated chromosomes, including the supernumerary one, could as well be isoallelic (isodisomic trisomyordi‐isotrisomy). This article briefly states some other predictions stemming from the concept of uniparental disomy, whose confirmation should serve as a test of the proposed hyp

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060207

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

年代:1980

数据来源: WILEY

摘要:

AbstractThe dermatoglyphic characteristics of 52 women with the Ullrich‐Turner syndrome were studied and compared to those of a control group of 50 normal women. Through the use of discriminant analysis, it is shown that the use of theA'‐dridge count alone has the same efficiency in separating Ullrich‐Turner syndrome patients from normal female subjects as discriminant functions here derived and other methods already published in the liter

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060208

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe report the case of a 3‐year‐old penta‐X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060209

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe report on a 32‐year‐old Italian man, his 5‐year‐old daughter, and his 3 1/2‐year‐old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft‐tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children, who also have delayed carpal ossification. The findings in this family suggest autosomal‐dominant inheritance of the condition. The clinical features are consistent with the condition currently referred to as “dista

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060210

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe describe a premature female infant with Kniest dysplasia, who died shortly after birth. This appears to be the first autopsy performed in this condition. Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and mildly bowed limbs. Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones with increased acetabular angles; and inadequate ossification of pubic rami. Histopathologic findings of cartilage included focal “Swiss‐cheese” pattern; disorganized physeal growth zone; and PAS‐positive, diastase‐resistant intracytoplasmic inclusions, which corresponded to finely granular material accumulated in dilated cisterns of rough endoplasmic

ISSN:0148-7299    

DOI:10.1002/ajmg.1320060211

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

年代:1980

数据来源: WILEY