摘要:

AbstractIt is common among Israeli Arabs who live in the villages to prefer consanguineous marriages, particularly among first cousins. In addition, such villages are populated by a few (<20) original families, and inter‐family/inter‐village marriages are infrequent. The purpose of this study was to examine the consequences of such “consanguinity” in Taibe, a large Arab village, 30 km from Tel Aviv. Six hundred ten families were prospectively ascertained through infants who were routinely seen in the local “Well Baby Clinics.” A significant increase in the incidence of major malformations was noted in relation to the closeness of the parental relationship. For the index cases group the prevalence of individuals with major malformations were 5.8% in the product of inter‐village marriages, 8.3% in the intra‐village non‐related matings, 15.1% in the distant consanguineous group, and up to 15.8% in the progeny of first‐cousin marriages (P<0.001). In the siblings of these index cases, the frequency of major malformations was 4.3%, 4.5%, 10.5%, and 10.3%, respectively. Analysis of the major malformations by each body system showed the same trend. The study demonstrates a marked high rate of consanguineous marriages, whose effect leads to a marked increase in major malformations and thus a prominent public health problem in such villages. This requires a unique genetic counseling approach. ©

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440102

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on a 13‐month‐old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial peno‐scrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage. © 1992 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440103

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

年代:1992

数据来源: WILEY

摘要:

AbstractA 16‐year‐old girl with mosaic Ullrich‐Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich‐Turner syndrome. © 1992 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440104

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

年代:1992

数据来源: WILEY

摘要:

AbstractA number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum. © 1992 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440105

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

年代:1992

数据来源: WILEY

摘要:

AbstractDeletion of 7p results in a wide spectrum of congenital abnormalities and minor facial and hand anomalies, often including crani‐osynostosis. We report on the oldest recognized patient with this disorder, a 24‐year‐old woman with an interstitial deletion from p15.3‐p21.2 or p21.3. The manifestations in this patient are milder than those of previously described patients, and include borderline mental retardation, short stature, minor facial anomalies, and several skeletal changes. The absence of craniosynostosis in this patient is noteworthy, given previous suggestions that there is a specific locus for this finding in the 7p region. Twelve cases of 7p deletion, in which the missing segment overlaps that of the current case, are reviewed. This case delineates a broader spectrum for patients with 7p deletion syndrome. © 1992 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440106

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe present a boy with a rare unbalanced translocation 46,XY,−15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader‐Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15pter→q13); hypertelorism, down‐slanting small palpebral fissures, preauricular tags, long philtrum (typical of duplication of 22pter→q11); severe laryngotracheo‐malacia, and proximal implantation of the thumb. In a review of the literature on chromosome abnormalities involving duplication of 22q11 the associated clinical phenotype consists of mild mental retardation, microcephaly, hypotonia, hypertelorism, down‐slanting palpebral fissures, a long philtrum, cleft or highly arched palate, and ear abnormalities. Preauricular pits or tags are common. Cardiovascular defects, renal and genital problems and dislocated hips are frequently present. Anal atresia and colobomata are mainly seen in cat‐eye syndrome, the phenotype associated with idic 22q11. Our findings indicate that patients with unbalanced t(15;22) can have manifestations of the dup 22q11, in addition to the previously reported Prader‐Willi phenotype, even if the duplicated segment is small. © 19

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440107

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe present a case of lethal short rib‐polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS. © 1992 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440108

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

年代:1992

数据来源: WILEY

摘要:

AbstractA sister and brother were investigated because both were developmentally delayed although they had somewhat different physical anomalies. The girl was found to have an interstitial deletion of chromosome 17. Her karyotype was 46,XX,del(17) (pter→p11.2:: cen→qter). Her brother had normal chromosomes in peripheral lymphocytes. Cytogenetic investigation of the mother showed the presence of the same deletion as in her daughter and a small supernumerary chromosome. The supernumerary chromosome appeared to contain the material deleted from the short arm of 17 since the mother's phenotype was normal. Study of skin fibroblasts in her son showed that he was mosaic for a normal cell line and one that contained the extra small chromosome; thus, he had mosaic partial trisomy 17(cen→p11.2). The origin of the centromere and telomere(s) of the small supernumerary chromosome in this family presents an interesting problem. © wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440109

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on an infant with the Marden‐Walker syndrome. In addition to the consistent neurological abnormalities described previously in this syndrome, the infant had a striking neurological constellation, absence of primitive reflexes, jerky eye movements, failure to habituate to repeated stimuli, inadequate behavior development, and absence of orientation responses to visual or auditory stimuli. Muscle biopsy showed a similar pattern to the congenital fiber‐type disproportion. Ultrasonograms and magnetic resonance imaging of his brain demonstrated absence of corpus callosum, colpocephaly, hypoplastic brainstem, hypoplasia of the inferior vermis and of the cerebellar hemispheres. These findings further delineate this syndrome and suggest that prenatal central nervous system (CNS) dysfunction, mainly of the cerebellum and brainstem, may play a significant role in the pathogenesis of the Marden‐Walker syndrome. © 1992 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440110

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on 2 sisters with congenital midgut volvulus. Both had similar facial changes different from those of their parents and the other 2 unaffected sibs. Both parents had normal barium meal roentgenograms. The occurrence of these abnormalities in sibs born to parents with apparently normal gastrointestinal tract anatomy suggest autosomal recessive inheritance, although a coincidence, multifactorial or autosomal dominant inheritance with nonpenetrance in either of the parents cannot be excluded. © 1992 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440111

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

年代:1992

数据来源: WILEY