摘要:

A case of partial duplication 13q14 → qter is reported in a 9‐year‐old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qter;q14). Subsequently, a normal balanced carrier sibling was diagnosed prena

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00675.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A 14‐month‐old boy with a 49, XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00676.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Heterozygotes for nonketotic hyperglycinemia (NKH), a disorder of glycine degradation, have a slightly abnormal metabolism of glycine. As the severe neurological symptoms which are characteristic for the homozygotes are at least partially due to a disturbance of glycine function as a neurotransmitter, minor neuronal dysfunctions might be expected also in heterozygotes. Although their general health was within normal limits in these 13 heterozygotes, slight neurological symptoms and signs were observed. Neurophysiological investigations revealed disturbance of the vestibular function in six subjects, preponderance of β‐wave activity in five, subnormal amplitude of a‐wave, and shortening of implicit time of the first oscillatory potential (OPI) in the retinography. Functioning of peripheral nerves appeared normal in measurements of motor conduction velocity, distal latency and amplitude of muscle response. These minor dysfunctions of the central nervous system may well be due to a slightly abnormal degradation of glycine in heterozygotes for nonketotic hyperglycin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00677.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

X‐linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro‐orchidism, large hands and large, folded ears. In the other family, macro‐orchidism was not seen, possibly because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X‐linked MR associated with the fragile X chromosome i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00678.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Comprehensive dissections of three infants with trisomy‐13 and three with trisomy‐18 have revealed several muscles which appear to be “abnormal” at the time of birth and shortly thereafter. Careful observations show that the peculiar morphology of these muscles results from delayed development rather than from anatomical malformation. The observations are compared with physiological, pathological andin vitroexperimental studies of delayed embryonic development in human ane

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00679.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR'S sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00680.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with this chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46, XY,‐22, der(22), t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carrier

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00681.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

An infant with the caudal regression anomalad is described. Karyotypic analysis revealed mosaicism for a bisatellited microchromosome. Using banding techniques, an attempt was made to further identify the marker chromosome. It is suggested that a causal relationship exists between the cytogenetic findings and the clinical observations.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00682.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A third case of monosomy 10q is described. The infant was severely malformed and died at day 9 post partum. The clinical symptoms are compatible with the two previous cases.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00683.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Forty‐seven Italian patients suffering from hepatocellular carcinoma (HCC) and 58 patients with chronic active hepatitis (CAH) were screened for α‐antitrypsin (αAT) levels and types and compared with a previously screened healthy Italian population. Serum αAT concentrations were significantly raised among the HCC patients compared to the controls, whereas the CAH group showed no differences. The incidence of non‐M phenotypes (MS, MZ and S) is significantly higher in patients with HCC than in the CAH group and the controls. The mean age of HCC patients with a non‐M phenotype is significantly lower than the mean age of HCC patients with an M

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00684.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY