摘要:

In a study of 13 families with genetic microcephaly, it was found that 11 of 24 parents (two fathers not ascertained) and 11 of 33 non‐microcephalic siblings were of subnormal intelligence. In a rare autosomal recessive condition, all parents and two‐thirds of unaffected siblings are presumed carriers of the gene. It so, nearly 50% of all presumed heterozygotes in the present study were mentally retarded. This proportion agrees well with the other major study of microcephaly in North America, but differs from the Dutch study. On the basis of pooled data from the three studies and the estimated incidence of 1:40000 for genetic microcephaly, it is postulated that (1) about 0.34% of the general population is mentally retarded because it is carrying the gene for microcephaly and (2) about one of nine mentally retarded individuals is heterozygous for the gene for microceph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00302.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Eight family members spanning four generations were found to have 45 chromosome count D/D translocation identified by Giemsa‐trypsin banding as t(13q;14q). The only mature male is believed to be infertile on the basis of a very low sperm count with reduced motility. This is believed to be related to the chromosome aberration and not to be coincidental. Aside from this, all were clinically normal except the index case, a young girl with unusual facies and moderate to severe retardation of growth and development. It is believed that her abnormalities were coincidental to the chromosome translocation and fortuitous in locating this family and initiating the pedigree. This example of essentially benign (some males are fertile) Robertsonian centric fusion in humans lends itself to interesting speculations about the results from chance matings between such translocation carrier

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00303.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The acheiropodia data are shown to be consistent with the hypothesis of a fully penetrant gene in the homozygous state. The expressivity is shown to be generally constant, with some minor variation between individuals as well as between the two sides of the same affected person.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00304.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00305.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Siblings, one female and one male, were each born approximately 1 month prematurely and showed microcephalus, shortness, and short limbs plus a receding forehead and one peculiarly positioned small toe. Each failed to thrive, and neither made any developmental progress beyond the newborn status. Each exhibited a similar leukemoid reaction, and one died of respiratory infection at 3 months, the other of seizures and central nervous system infection at 5 months.At autopsy, each had a small brain, hydrocephalus, and bony anomaly of the cranium, the one of the posterior fossa and the other of the foramen magnum; in addition, one had absence of the corpus callosum. The long bones were considered atypical of chondro‐dystrophy.The combination of mildly shortened bones of the extremities, moderately anomalous ribs, and slightly flattened vertebrae with microcrania does not resemble any of the previously recognized forms of short limbed dwarfism.We propose determination by a single, rare, autosomal recessive gene. The parents had greatly different ancestry and their apparent heterozygosity for such a gene made their mating particularly unusua

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00306.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A family is described in which a translocation between chromosomes 20 and 22 has been observed in three generations. Two first cousins with remarkably similar malformations and mental retardation have identical karyotypes which, after chromosome banding, were interpreted as partially trisomic for the short arm of chromosome No. 20.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00307.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Detection of the cystic fibrosis (CF) heterozygote by testing for cystic fibrosis factor activity (CFFA) in serum samples using bioassays has been reported to give unreliable results. The present study was undertaken to find whether the use of medium from short term white blood cell or skin fibroblast cultures, rather than serum, as the test sample would eliminate such inconsistencies. Short term white blood cell cultures were established from 107 normal, healthy individuals. Cultures from 97 had no CFFA, six (No. 1–6) showed variable results and four (No. 7–10) had activity in all four tests done on a single sample. When the assays were repeated 3 months later on new cultures from these four positive CFFA individuals, two showed activity (Nos. 7&9) and two did not (Nos. 8&10). All 10 individuals whose cultures showed CFFA had histories of allergies. The association of CFFA in the culture medium derived from individuals having allergies with the intermittent presence of this activity suggested that environmental factors induced a CFF‐like activity in such white blood cell cultures. The oyster ciliary assay, using medium from white blood cell cultures, cannot be used for screening for the CF heterozygote since the substitution of culture medium for serum did not eliminate inconsistent results and CFFA was not specific by this assay for the CF gene.Of the fibroblast lines established from the four persons whose initial white blood cell cultures consistently showed CFFA, only one (No. 7) showed the CF culture phenotype (CFFA positive and metachrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00308.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases. In addition, the girl had an incomplete harelip, a cleft palate and a peculiar congenital heart defect, a ventricular septal defect with pulmonary valve stenosis and a marked hypoplasia of the pulmonary trunk, including the bifurcation. Chromosome analysis revealed a mosaicism with normal and abnormal mitoses (47 chromosomes). The extra chromosome was a metacentric E16–like chromosome, which on the basis of the G, R, Q and Giemsa‐11–banding could be identified as an isochromosome of the short arm of chromosome 9 (46,XX/47,XX,+ i (9) (pter?cen?pter)). The patient consequently had a partial tetrasomy of the short arm of chromos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00309.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Two families with all children affected by primary vesicoureteral reflux are reported. Both sets of parents were examined and onIy in one family the mother was also affected by unilateral reflux. This congenital lesion has only recently been recognized as a common disease, but because diagnosis depends on voiding cystography, it is not made until the child or adult becomes symptomatic or presents with end‐stage renal disease. As most cases are sporadic, a multiple factorial mode of inheritance is most probable, but an autosomal dominant or recessive gene cannot be excluded as the cause of the disease in some families. It is recommended that all first degree relatives of the patients should be investigated, in order to detect asymptomatic cases of this condition, which is likely to cause progressive renal damage and may have fatal termination due to renal failur

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00310.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

An 18 year female patient with short stature, amenorrhoea and poorly developed secondary sexual characteristics, had subnormal oestrogen excretion and increased levels of plasma gonadotrophin. Laparoscopy revealed streak ovaries. A reduced number of buccal mucosal cells showed positive sex chromatin. Chromosome studies of blood lymphocytes indicated mosaicism: the major cell line was characterized by an isochromosome for the X short arm, 46,XXpi; the minor cell line had a single X chromosome, 45,X.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb00311.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY