摘要:

A method is presented whereby genetic counsellors can calculate genetic risks in a wide variety of circumstances using only arithmetics. The method is general in that it can handle such information as gene frequency, mutation rate, mode of inheritance, penetrance, pedigree to which the consultand belongs, phenotype of the consultand and his relatives, biochemical findings, etc. Each of the possible combinations of genotypes which may be present in the pedigree is listed and considered in turn. The method consists of a series of simple steps leading mechanically to the right answer.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00343.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

On the basis of studies in two brothers and their double first cousin, the Kallman syndrome (KS) is discussed as an X‐linked syndrome of anosmic hypogonadotropic hypo‐gonadism. The anosmia is thought to represent agenesisorhypoplasia of the olfactory lobes, the mildest form of the alobar holoprosencephaly developmental field defect; this is supported by the finding of hypotelorism in two of the patients and their mother. The endocrine defect is thought to represent a hypothalamic abnormality of the luteinizing hormone releasing hormone; borderline normal intelligence may represent another pleio‐tropic CNS manifestation of the KS gene. All three affected males had unilateral renal aplasia, associated in one with ipsilateral abyence of the testis. The presence of at least two developmental field defects (involving the CNS and urogenital system) makes it likely that the KS is a true multiple congenital anomaly syndrome; this is supported by the finding of additional, mostly minor, anomalies reported by other investigators. Heterozygous females may also show manifestations of anosmia, hypogonadism, possibly even internal genital malformation; however, genetic heterogeneity of anosmic hypogonadism is pos?ible, and for the time being it is probably better to designate sporadic female cases of anosmic hypogonadism as examples of the olfacto‐genital syndrome of DeMorsier. Linkage studies are urgently needed to clear up the question of genetic heterogeneity and to help develop empiric recurrence risk figures in anosmic hypog

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00344.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Two cases of the Smith‐Lemli‐Opitz syndrome are described, together with the autopsy findings. In both cases, the typical appearance and visceral malformations were present. Hypoplasia of the frontal lobes and corpus callosum, and aplasia of the splenium constitute abnormalities of the brain which may be useful in the diagnosis of this disorder at autopsy. The autosomal recessive mode of inheritance of this syndrome was confir

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00345.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A family with neurofibromatosis is reported in which the proband was an infant in whom the diagnosis was established at birth. In this case, the presenting symptom was a large tumor of the tongue and macrocephaly. Cafe‐aula it spots appeared early, as did additional subcutaneous tumors, with skeletal involvement and severe psychomotor retardation. The rapid growth of the tumor, its spread within the mediastinum, neck and oral cavity, led to a strangulating death at one year of age. The disease originates from early embryonic involvement of the neural crest and from tissues derived from its caudal end. It is probably caused by a single pleiotropic gene transmitted as an autosomal dominant trait, with varying expression of the disease in different members of the same famil

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00346.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Two new cases of phenotypic males with 46, XX karyotype are presented. Fluorescence, autoradiographic and centromeric heterochromatin studies in several lines, including testi‐cular cells, failed to demonstrate the existence of the Y Chromosome or the existence of distal Yq material translocated to another chromosome in the two patients. The Xg study in one of the patients and his family provided direct evidence of transmission of an X chromosome from father to son. We present indirect evidence favoring the mutation theory to explain the XX male phenotyp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00347.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Six cases of chromosomal mosaicism detected in amniotic fluid cultures are described. In five of these there was no evidence of fetal mosaicism. In one case fetal mosaicism was demonstrated but only by the study of fibroblasts since blood cultures showed only normal cells. The implications of amniotic fluid mosaicism are discussed and it is concluded that this usually does not indicate fetal mosaicism. The value of repeated amnio‐centesis in the diagnosis of fetal mosaicism was demonstrated by findings in three of the cases. It is recommended that amniotic fluid cultures be harvestedin situfor chromosome studies and that cytogenetic results be expressed as number of colonies karyotyped rather than as number of cells analyze

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00348.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be hornozygous for the “silent” allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a “nearly silent” plasma esterase allele, in one of the family units investigated, is su

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00349.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A brief overview of the clinicopathologic findings in the cerebro‐hepato‐renal syndrome of Zellweger (ZS) is presented. In order to understand more clearly the many diverse features of the ZS condition, a guideline is suggested for evaluation of a ZS infant in terms of physical features, family history, clinical pathophysiologic parameters, biopsy specimens, and postmortem procedures. The references provide rationale pertinent to the subject of discussion and/or furnish comments upon technical aspects for performance of analytical procedu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00350.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The recently described thin ribs seen in a neonate suffering from myotonic dystrophy represents a valuable sign for early detection of this condition. Thin ribs were found on chest radiographs of two siblings a short time after birth. This led in retrospect to the diagnosis of neonatal myotonic dystrophy. The diagnosis was confirmed by clinical and electromyographic data of myotonic dystrophy in the mother who was not previously known to have the disease. Both children died at the age of 2 days from respiratory distress. All children of affected mothers should have a chest radiograph soon after birth in order to help in diagnosis and to establish the frequency of this sign.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00351.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

In the search for a simple screening test for prenatal diagnosis of amino acid metabolic disorders, we compared the free amino acid contents in the extract of cultured skin fibroblasts from normal individuals with that from patients with 10 metabolic disorders: maple‐syrup urine disease; homocystinuria due to cystathionine synthase deficiency; homo‐cystinuria due to N5,10‐‐methylene‐tetrahydrofolate reductase deficiency; citrullinemia; argininosuccinic acidemia; propionic acidemia; hyperprolinemia Type II; non‐ketotic hyper‐glycinemia; hydroxyprolinemia; and hyperornithinemia. An accumulation of abnormal metabolites was not found in any of the disorders except argininosuccinic aciduria. Argininosuccinic acid anhydrides were detected in cell extracts from all four patients only after the extract was boiled at acid pH for 21/2h. Thus, it is concluded that the measurement of free amino acids in extracts from cultured fibroblasts is not a useful screening technique in the diagnosis of inborn errors of amino ac

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00352.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY