摘要:

Frequencies of 12 fluorescent chromosome polymorphisms were scored from Q‐banded karyotypes derived from 108 midtrimester diagnostic amniotic fluid cell cultures. The most frequent variants were the bright fluorescent short arm of chromosome 13 (P= 0.458) and the bright fluorescent marker close to the centromere on chromosome 3 (P =0.426). The polymorphism pattern was found to be different between the maternal (blood culture) and fetal (amniotic fluid cell culture) karyotypes in each of the 25 paired cases studied. This technique is valuable in prenatal diagnosis to exclude possible maternal cell contamination and outgrowth in cases where the amniotic fluid cell cultures reveal a female karyotyp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01308.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Two half‐brothers with short stature secondary to growth hormone deficiency and a family history implicating X‐linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH and TSH release were normal. LH and FSH responses during an i.v. GnRH test were severely blunted. His half‐brother also had a normal physical examination, except for severe short stature and very small external genitalia. Deficiencies of ACTH, and TSH as well as GH were documented. An i.v. GnRH test showed no LH or FSH response. These studies support the existence of an X‐linked recessive form of hypopituitarism and portend the clinical usefulness of the i.v. GnRH test in evaluating gonadotropin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01309.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Six patients have been ascertained because of abnormal phenotypes but with apparently balancedde novotranslocations. Five of them were mentally retarded with multiple congenital anomalies. The sixth patient had normal mental development but revealed ambiguous genitalia and multiple congenital anomalies. No syndromal diagnosis was possible in any of the six cases. The appearance of apparently balanced reciprocal translocations in association with abnormal phenotype may be coincidental, or the two may be causally related. If the latter is true, the causal relationship may be based upon: I) a submicroscopic chromosomal loss, 2) position effect, or 3) a mutation at the site of the break in one or both translocated chromosomes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01310.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

In eight children with the dysequilibrium syndrome, an autosomally recessively inherited syndrome of cerebral palsy, low serum dopamine‐β‐hydroxylase activity was found. This indicates a diminished activity of the sympathetic nervous system in this synd

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01311.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

DNA cytophotometry was used to resolve a cytogenetic ambiguity involving a possible deletion of part of the short arm of chromosome 18 in cells obtained by amniocentesis. Measurements of chromosomal DNA content were within normal limits. This is the first time that DNA cytophotometry has been used in cytogenetic diagnosis; it illustrates the potential of this new approach to cytogenetics.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01312.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Fibroblast strains derived from six patients with maple syrup urine disease have been investigated for their requirements of the cofactors NAD, CoASH, Mg++and TPP in comparison with 10 normal control strains. The reconstitution of the decarboxylase function of branched chain α‐keto acid (BCKA) dehydrogenase complex in lysed cells was studied with respect to the substrates u‐keto‐isocaproic acid, α‐keto‐isovaleric acid, and α‐keto‐β‐methylvaleric acid (KIC, KIVA, MEVA). The enzyme activity of all normal control strains for the substrates KIC and KIVA was not reconstituted by TPP + Mg++alone, but CoASH + NAD could reconstitute the enzyme activity with KIC and KIVA in different degrees. Only two control strains were tested with MEVA as substrate, and these showed in contrast that TPP + Mg++could partly reconstitute the enzyme activity. In contrast to the relative homogeneiy in the reconstitution profiles of normal strains, the five classical and one intermittent MSUD strains showed heterogeneity in cofactor requirements.Complementation analysis using heterokaryons prepared from fibroblasts of four patients with classical MSUD and one patient with intermittent MSUD showed, in contrast to experiments with normal controls, a partial amelioration of the defect in two combinations; it is suggested that the defect in these strains is located at different functional subunits of the

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01313.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Meckel syndrome was diagnosed prenatally by α‐feto protein and β‐trace protein determinations in amniotic fluid. No central nervous system anomalies were detected in the affected fetus, who presented with large polycystic kidneys and polydactyly. An excessive synthesis of these fetal proteins by the dysplastic kidneys is suggested, allowing for the possibility of prenatal diagnosis of polycystic kidneys in families at risk for this disease.The present family emphasizes the importance of amniocentesis in pregnancies at risk for Meckel syndrome, regardless of the presence of a defect in neural tube cl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01314.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

In a survey carried out to determine the incidence of Duchenne muscular dystrophy in the South East of Scotland, 47 cases were ascertained among 177,413 live male births for the years 1953 to 1968. The overall incidence is 1 case in 3,775 live male births (26.5 ± 3.2 × 10‐‐3). This incidence figure has been compared with those reported in nine other studies, and any differences appear likely to be due to varying degrees of ascertainment. So far there is no evidence of any decrease in incidence of the disease in S.E. Scotland as a result of genetic counselling and antenatal foetal s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01315.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome.Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non‐affected family members. Furthermore, three normal‐appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS ty

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01316.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The first live‐born female with trisomy 9 mosaicism is reported. This patient, like four others in the literature, has a characteristic face with narrowed temples, enophthalmus, large nose and pouched cheeks, as well as skeletal abnormalities of the extremities, including hip dislocation, limited joint mobility and bone hypoplasi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01317.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY