摘要:

The campomelic syndrome is a skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity in patients with campomelia. Cytogenetic analyses in the past have revealed an unexpectedly high incidence of a 46,XY karyotype in phenotypic females. We report here on a patient with a typical case of campomelic dysplasia in whom ade novoparacentric inversion of chromosome 17q was identified. Review of the genetic map of the inverted region identified potential “structural” genes including the Hox‐2‐homeobox gene and the collagen gene, COLlAl, which may be involved in the pathogenesis of campomelic s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03050.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

The responses to the High School Personality Questionnaire and the Millon Adolescent Personality Inventory of a series of neonatally identified 47,XXY adolescent males and age‐matched controls were compared. The extra X males' results indicated that they were more assertive, impulsive and prone to conflict than controls. Individual differences in these characteristics among the extra X cases had little relationship to quality of parenting but were related to indices of pubertal developmen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03051.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Fifty unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been studied through use of the dystrophin cDNA probes. The 14‐kb dystrophin cDNA was subdivided into six subclones, and Hind III‐digested DNAs were analyzed by Southern blotting. Of 50 unrelated patients, 20 showed a deletion of one or several of the exon‐containing Hind III fragments (40.0%). These corresponded to 50% (11/22) of BMD patients and 32.1% (9/28) of DMD patients, and the position and extent of deletions were mapped and proven to be more heterogeneous in DMD than in BMD. Both ends of deletions detected by probe 1–2a were common to all six BMD patients, and the 5'ends of deletions in probe 5b‐7 were also common to four BMD patients. The phenotypic‐specific deletion in Japanese BMD patients existed in the 5'end of the DMD gene, although an apparently similar deletion produced a wide range of clinical courses (BMD phenotype). Three out of eight females in DMD/BMD families were diagnosed as carriers through use of the junctional fragment and dosage analyses of dyst

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03052.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Plasma homocyst(e)ine level was determined for 96 identical (MZ) and 92 fraternal (DZ) adult male twins aged 59–69. There was no difference in mean between MZ (10.31 nmol/ml) and DZ (10.36 nmol/ml) twins. The intraclass correlation coefficient of the log‐transformed homocyst(e)ine level in 43 complete MZ and 39 complete DZ pairs was 0.55 and 0.19, respectively. The MZ correlation was significantly (p<0.05) greater than the DZ correlation, suggesting that the level of plasma homocyst(e)ine is genetically influen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03053.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere byin situhybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker chromosomes, and thereby provide better understanding of the clinical significance of these.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03054.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

In this study we report the results of a systematic etiological, clinical genetic study in 307 institutionalized mentally retarded adult males. Special attention is paid to the nosology of X‐linked mental retardation. During the survey 63 males with one or more ‘Martin Bell’‐like features were identified in whom repetitive fragile Xq27–3 screenings were negative. In 13 of them, belonging to 9 different families, pedigree data were compatible with X‐linked inheritance. This finding confirms the existence of one (or more) forms of fra(x) negative mental retardation with ‘Martin Bell

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03055.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We describe a child with multiple anomalies and severe retardation with dup 7pter‐p15.1 and del 7q36‐qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03056.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

DNA samples from 25 unrelated Danish patients with familial hypercholesterolemia (FH) were screened by Southern blot hybridization to detect gross alterations in the low density lipoprotein (LDL) receptor gene. Three FH‐patients were found to have a deletion. Two of these delete part of the cysteine rich domain, which comprises the ligand binding region of the LDL‐receptor. The third deletion encompasses coding regions for the cytoplasmic part of the receptor. As two of these deletions could be equivalent to previously described LDL‐receptor gene alterations, these data seem to support a notion of recombination hot spots which involve Alusequ

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03057.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We report a malformed infant with ade novointerstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al. (1988), we conclude from our comparison of the seven previously reported cases involving deletions of bands 4(q25q27) that a specific phenotype cannot yet be described for this deletion.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03058.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short‐limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plainin uteroradiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis ofin uterodwarfism are presented. Sonographic features correlated with neonatal death are describe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03059.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY