摘要:

AbstractWe describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low‐set ears, and hand and foot abnormalitie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250302

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

年代:1986

数据来源: WILEY

摘要:

AbstractEight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains un

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250303

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

年代:1986

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250304

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

年代:1986

数据来源: WILEY

摘要:

AbstractThis is a report on four persons in one family with a condition similar to that described by Ramon et al [Oral Surg 24:436–48, 1967] in two sibs born to a consanguineous couple. Our patients also had mental deficiency, epilepsy, cherubism due to fibrous dysplasia of the maxillae, gingival fibromatosis, hypertrichosis, and stunted growth. This appears to be an autosomal recessive trait in both families. Our patients are the second set reported with this syndrome; they also have juvenile rheumatoid arthritis, which was not described in the family reported by Ramon et al [Oral Surg 24:436–48, 1967]. We conclude that the Ramon syndrome should also include juvenile rheumatoid arthri

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250305

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe report on two sibs with familial isolated growth hormone deficiency (IGHD) resulting from homozygosity for a 7.6 kb deletion within the growth hormone gene cluster. The deletion not only affects the structural gene for growth hormone (GH‐N) but also alters sequences adjacent to the chorionic somatomammotropin‐like (CS‐L) gene. In contrast to previously reported cases with IGHD type IA, our two patients responded well to growth hormone substitution and formation of blocking antibodies did not

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250306

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

年代:1986

数据来源: WILEY

摘要:

AbstractIncreased histocompatibility antigen sharing has been reported in couples experiencing recurrent infertility problems. Mathematical expressions describing the probability distribution of the number of antigens shared by randomly mating couples are derived for a single locus, two linked loci, and multiple independent systems. These theoretical frequencies are applied in concert with conventional statistical procedures to evaluate hypotheses concerning antigen distributions. Extensions for simultaneous consideration of other genetic systems are discussed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250307

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe report on a 13‐year‐old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter→ql3::ql5→qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, valgus heels with flat feet, and congenital heart defect seem to form part of a specific del 6q s

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250308

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

年代:1986

数据来源: WILEY

摘要:

AbstractChromosome analysis of blood cells from a 42‐year‐old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(ql3q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250309

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe two male patients with a 46,XY, − 18, +der(18),t(7;18)(q31.2; q23)mat karyotype. Previously, 22 other patients with dup(7q) have been described, but only four of them had duplication of segment 7q31→ 7qter. The two patients in this study were ascertained independently and lived in different states. However, because of the rarity of this translocation, the patients were suspected to be related. The families were investigated extensively, and the patients were found to be third cousins once removed. Both patients had severe hypospadias, large fontanelles, cleft palate, and minor facial anomalies (square and prominent forehead, short, downslanting palpebral fissures, long eyelashes, long philtrum, short nose, thin vermilion border with downcurved upper lip). Their phenotypes were compared with those of previously described patients. One of the two patients described here is alive at 23 months and is the oldest known living patient with this chromosome abnormality. Apneic spells often are present and may be secondary to severe brain abnormalities, such as those identified in our two patie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250310

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

年代:1986

数据来源: WILEY

摘要:

AbstractPrevious reports suggest that windowing the shells of chicken eggs during the first day of incubation frequently results in dysmorphogenesis of the central nervous system. We report here data that further delineate the neural tube defects associated with this animal model. In addition, we describe another birth defect syndrome associated with windowing: the early amnion deficit spectrum (EADS). Several components of the egg are altered structurally by windowing: the shell, outer and inner shell membranes, yolk, and air space at the blunt end of the egg. A new air space is formed over the embryo as the original one at the blunt end is obliterated. A series of studies (pH, oxygen and carbon dioxide tensions, relative humidity, temperature, and deformation of the yolk documented with magnetic resonance imaging) examining individual steps of the windowing procedure and additional techniques that simulate windowing suggest that mechanical stress causes isolated neural tube defects and dehydration causes amnion defects. These amnion defects are associated with other embryonic abnormalities suggestive of deformations consistent with EADS.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250311

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

年代:1986

数据来源: WILEY