摘要:

AbstractSacral defect with anterior meningocele (SDAM) is a type of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, rectal fistula and abscess, or meningitis. The inheritance is autosomal dominant. HLA has been implicated in caudal dysgenesis because of analogy with disorders of the T‐locus complex, a tail length determining gene in mice which is linked to the major histocompatibility complex, H‐2. Members of a 5‐generation family with sacral defect and anterior meningocele (SDAM) were typed with polymorphic markers (dinucleotide repeats D6S89, D6S105, D6S109, and TCTE1) linked to HLA. Two‐point and multipoint analysis exclude the HLA region as the location for the SDAM gene in this family. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520102

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

年代:1994

数据来源: WILEY

摘要:

AbstractHere we describe a statistically significant association between hypospadias and spina bifida. This association was identified through the (Spanish Collaborative Study of Congenital Malformations (ECEMC), where the observed number of cases was greater (P<0.0005) than expected just by chance among males. We also detected a pair of concordant twins who had monochorial monoamniotic placenta. To the best of our knowledge, this is the first report of this combination of defects, consequently it must be confirmed whether this statistic association is an entity. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520103

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

年代:1994

数据来源: WILEY

摘要:

AbstractTo further characterize the clinical, radiographic and chondro‐osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joint laxity and marked micrognathia. Radiographic changes were distinct, consisting of a supernumerary ossification center between the proximal phalanx of the index finger and the second metacarpal, and variable thumb changes. The femoral necks showed enlargement of the lesser trochanter with metaphyseal beaking, producing a characteristic “monkey wrench” (Swedish key) appearance. Growth plate cartilage showed dilated cisterns of rough endoplasmic reticulum in reserve zone chondrocytes. Three of the 7 cases were diagnosed prenatally by second trimester ultrasound and one case by fetoscopy. This syndrome exhibits significant phenotypic variability and must be differentiated from the Catel‐Manzke syndrome which exhibits similar radiographic changes in the hands. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520104

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe have identified a patient with premature ovarian failure (POF) and a balanced X;autosome translocation: 46,X,t(X;6)(q13.3 or q21;p12) using high‐resolution cytogenetic analysis and FISH. BrdU analysis showed that her normal X was late‐replicating and translocated X earlier‐replicating which is typical of balanced X;autosome rearrangements. Molecular studies were done to characterize the breakpoint on Xq and to determine the parental origin. PCR probes of tetranucleotide and dinucleotide repeat polymorphisms, and genomic probes were used to study DNA from the patient, her chromosomally normal parents and brother, and somatic cell hybrids containing each translocation chromosome. The translocation is paternally derived and is localized to Xq13.3‐proximal Xq21.1, between PGK1 and DXS447 loci, a distance of 0.1 centimorgans.A “critical region” for normal ovarian function has been proposed for Xq13‐q26 [Sarto et al., Am J Hum Genet 25:262–270, 1973; Phelan et al., Am J Obstet Gynecol 129:607–613, 1977; Summitt et al., BD:OAS XIV(6C):219–247, 1978] based on cytogenetic and clinical studies of patients with X;autosome translocations. Few cases have had molecular characterization of the breakpoints to further define the region. While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3‐q27 [Krauss et al., N Engl J Med 317:125–131, 1987; Davies et al., Cytogenet Cell Genet 58:853–966, 1991]or within Xq26.1‐q27 [Tharapel et al., Am J Hum Genet 52:463–471, 1993] responsible for POF. We now propose that there may be a second gene for POF (POF2) located at Xq13.3

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520105

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

年代:1994

数据来源: WILEY

摘要:

AbstractBreeding studies are reported of a previously undescribed hereditary retinal degeneration identified in the Siberian Husky breed of dog. This disorder clinically resembles the previously reported autosomal recessive canine hereditary retinal degenerations collectively termed progressive retinal atrophy (PRA). However, the pedigree of the propositus, a male Siberian Husky, exhibited an X‐linked pattern of transmission. This dog was outcrossed to three phenotypically normal female laboratory Beagles and two of their F1 daughters were bred to a phenotypically normal male Beagle, producing affected males in the F2 generation. Subsequent inbreedings produced further affected males and affected females as well. X‐linked transmission was established by exclusion of alternative modes of inheritance and, consequently, the disease has been termed X‐linked progressive retinal atrophy (XLPRA).This is the first reported X‐linked retinal degeneration in an animal. Because of the many similarities of PRA in dogs to retinitis pigmentosa (RP) in humans, this new disease may not only represent the first animal model of X‐linked RP (XLRP) but may well be a true homolog of one of the XLRP loci (RP2, RP3, RP6). It is the first retinal degeneration in dogs that can be assigned to an identified canine chromosome, and the first for which linkage mapping offers a realistic approach to proceed by positional cloning towards identifying the responsible gene locus. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520106

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

年代:1994

数据来源: WILEY

摘要:

AbstractSince the first description by Elliot et al. [1970, Am J Dis Child 119:72–73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature. © 1994 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520107

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

年代:1994

数据来源: WILEY

摘要:

AbstractTwo agonadic sisters, one with a 46,XY and the other with a 46,XX karyotype, both with normal female external genitalia and hypoplastic Müllerian derivatives, born to a consanguineous marriage, were studied from a clinical, endocrinological, histological, and genetic perspective. Using PCR amplification, Southern hybridization, and DGGE analysis, it was found that the XY patient had no mutations in the conserved sequence of the SRY gene, the putative testis‐determining gene in mammals, whereas her XX affected sister is SRY‐negative. To our knowledge, this is the first report of XY and XX sibs in familial gonadal agenesis without other somatic abnormalities. The involvement of an autosomal locus impeding gonadal development in both sexes is discussed. © 1994 Wiley‐Li

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520108

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe report on 2 unrelated patients who had chromosome analysis performed because of psychomotor delay, Failure to thrive, and minor anomalies. Each patient had a novel proximal 14q deletion (q11.2 to q21.1 in patient 737 and q12 to q22 in patient 777). Polymorphic (C‐A)nmicrosatellite markers distributed along the length of chromosome 14q were examined in both patients and their parents in order to determine which marker loci were deleted. The deletion in patient 737 was found to be paternal in origin, based on the analysis of 2 marker loci (D14S54 and D14S70), thus assigning these loci to the deleted interval q11.2 q21.1. Furthermore, 3 loci were not deleted (TCRD, D14S50, and D14S80), suggesting that they are within or proximal to 14q11.2. In the other family (patient 777), none of the markers were fully informative, but the deleted chromosome was determined to be paternally derived based on cytogenetic heteromorphisms. Despite having overlapping proximal 14q deletions, these 2 patients shared few phenotypic similarities except for failure to thrive, micrognathia, and hypoplasia of the corpus callosum. Therefore, a distinct proximal 14q deletion syndrome is not yet apparent. However, the molecular analyses facilitated the localization of several 14q DNA markers to the deletion regions in these 2 patients, while excluding other markers from each deletion. © 1994 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520109

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

年代:1994

数据来源: WILEY

摘要:

AbstractBody mass index (BMI) is a useful tool for the investigation of obesity or underweigh. It follows a typical pattern throughout childhood. During the first few years of life underweight due to feeding problems and gastrointestinal disturbances is considered a common sign in Williams‐Beuren syndrome (WBS), whereas obesity is frequently reported in WBS adults. Systematic studies on weight gain and body mass index in WBS do not exist. Therefore, we studied weight gain relative to height expressed as BMI in 82 WBS girls (459 measurements of weight and height) and in 104 WBS boys (562 measurements). At birth BMI was significant lower in WBS than in normal infants in both sexes (P<0.0001). During the first months of life, mean BMI showed a catch‐up from the 3rd to the 10th‐50th centiles in WBS infants relative to the normal standards. The further course of BMI was almost parallel to normal development. In addition, a gradual relative increase to the 50th centile of normal was seen in both sexes. In conclusion, weight gain during the first year of life was sufficient. Feeding and gastrointestinal problems seem not to have a severe impact on weight gain in infancy. Until adulthood weight relative to height continuously reached the 50th centile of normal. Thus, obesity is not a common finding in young adults with WBS. The results of this study may serve as a disease‐specific reference of BMI development in WBS patients. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520110

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe describe a proband and his mother who appear to have a new dominant syndrome of mental retardation: pterygium colli, unusual features, and digital anomalies. The craniofacial abnormalities include brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low set, posteriorly rotated ears. The digits are remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320520111

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

年代:1994

数据来源: WILEY