摘要:

AbstractMental retardation has been associated with fra(X) but comprehensive psychological evaluation has rarely been applied to 2 major behavioral questions 1) the extent of individual variation in IQ among fra(X) males and the possibility of some fra(X) males being of normal IQ; and 2) whether there is a depression in general IQ or whether specific abilities are impaired. The problems of developing an effective battery of tests for assessing fra(X) are discussed.These questions were examined in 54 individuals, comprising fra(X) males, their obligate carrier mothers and those sisters shown to have the fra(X). Among noninstitutionalised males nonverbal IQ as measured on a Block Design test ranged from 100 to 0, and vocabulary scores while generally higher, ranged from 79–33. The males scored low on a digit span memory task, while performance on a memory of objects task was adequate. Despite lower overall scores, a similar pattern and variability emerged in institutionalised males. Daughters were extremely variable in performance and the mothers performed much better, supporting the view that women who have children are a selected subset of fra(X) syndrome individuals.The performance of one male is discussed in detail. His vocabulary and nonverbal IQ scores were normal, despite his having other specific cognitive deficits. The pattern of abilities and behavior seen in fra(X) may result in an overestimation of intelligence and underestimation of penetrance when based on clinical impressions rather than formal psychological assessment. The implications of this for molecular and for population genetic approaches to fra(X) are discusse

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280102

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

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280103

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on an infant with Neu‐Laxova syndrome [Neu et al, 1971; Laxova et al, 1972; Povysilova et al, 1976; Lazjuk et al, 1979; Scott et al, 1981; Fitch et al, 1982; Mueller et al, 1983; Turkel et al, 1983; Paes et al, 1985], and emphasize the ichthyotic skin lesions as a prominent characteristic change in this syndrome and as the probable cause of some of the other findings. Also, we call attention to the increased fatty tissue beneath the epidermis and the atrophic muscles there embedded. These findings should be considered in the diagnosis of this syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280104

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

年代:1987

数据来源: WILEY

摘要:

AbstractA genetic follow‐up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23‐year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin comp

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280105

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on 4 sibs (2F, 2M) with Prader‐Willi syndrome (PWS). Diagnosis was made clinically on the basis of history, behavior, and physical findings in 3 of the sibs. The other child had died at age 10 months with a history and clinical findings typical of first phase of PWS. Results of chromosome studies on the parents and surviving sibs were normal. The implications of this unusual familial occurrence for our understanding of PWS are discusse

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280106

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

年代:1987

数据来源: WILEY

摘要:

AbstractDeletions, duplications, and rearrangements of the long arm of chromosome 15 are frequently associated with the clinical diagnosis of the Prader‐Willi syndrome. However, a number of other clinical entities have also been associated with similar, if not identical, cytogenetic defects, arguing for clinical heterogeneity associated with abnormalities in this region of chromosome 15. We present 3 patients who all appear to have deletions in 15q11–15q12, such as described for many patients with Prader‐Willi syndrome; however, none of these patients has classical clinical features of the Prader‐Willi syndrome. The first patient is a child with Williams syndrome, the second, Angelman (Happy Puppet) syndrome, and the third is a child with hypotonia of infancy, obesity, and developmental delay, but who does not meet specific diagnostic criteria for the Prader‐Willi syndrome. It is proposed that different molecular abnormalities involving specific points or segments along the long arm of chromosome 15 might account for the clinical diversity seen among these and other

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280107

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on a 10‐year‐old boy with an interstitial deletion within the region of bands 15q11 → q13. Authors have associated the manifestation of the Prader‐Willi syndrome (PWS) with variable deletions involving the bands q11 → q13. Our patient had atypical manifestations not usually associated with PWS, ie, normal stature, proportionally sized hands and feet, normal genitalia, and was nonambulatory and severely mentally retarded. This case emphasized the clinical diversity seen in proximal 15q deletions in the region considered to be correlated wit

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280108

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

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280109

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe describe the first documented association of congenital cytomegalovirus (CMV) infection and cyclopia. A previous report has suggested that any infant with congenital ocular defects should be investigated for CMV infection [Frenkel et al, 1980]. Our case underlines this suggestion and questions a teratogenic role for CMV in cyclopia‐holoprosencephaly. More documented cases may help clarify the relationship of transplacental CMV infection to the holoprosencephaly developmental field defect, including cyclopi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280110

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

年代:1987

数据来源: WILEY

摘要:

AbstractCertain relatively common congenital malformations that are reported to be excessive in frequency among twins are also found in excess among first‐degree relatives of twins. They are familially associated with each other. Like twinning, they are familially associated with nonrighthandedness (NRH). They also share the fact that they affect structures that are built by the fusion of bilateral embryonic halves and then remodeled under the influence of neural crest mesenchyme. This conjunction of associations suggests that twinning, NRH, and the fusion malformations share causal elements, some of which may be heritable. Determination of spatial relationships in embryogenesis (“embryonic body symmetry determination”) and the functions of neural crest mesenchyme may be mechanisms unifying these ef

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280111

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

年代:1987

数据来源: WILEY