bluuebunny/crossref_metadata_2025 huggingface dataset:
Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch‐Nyhan and Tay‐Sachs patients and amniotic fluid cells
Authors: Richardson B. J. , Cox D. M.
Published: July 2010

A means of reducing the time interval between amniocentesis and biochemical analysis for the prenatal diagnosis of biochemical diseases is presented. Fibroblasts from nomal individuals, patients with Lesch‐Nyhan syndrome and patients with Tay‐Sachs disease, and normal amniotic fluid cells, were grown in isolation in MicroTest II tissue culture plates. Hypoxanthine‐guanine phosphoribosyl transferase (HGPRTase) and hexosaminidase A were studied in independently derived colonies arising after a median culture period of 14 days. Colony six ranged from 2,000 to 8,000 cells. HGPRTase activity, expressed as the ratio of hypoxanthine‐C14 to adenine‐113 uptake, was assayed using differential scintillation spectrometry. Hexosaminidase A was investigated by micro‐electrophoresis. Discrimination of enzyme deficient from non‐deficient colonies was accomplished in each case and both enzymes were detectable in amniotic fluid cell colonies. The potential of the method for prenatal diagnosis of the two diseases studied and of biochemical diseases in general is discussed.
Prevalence of chromosome abnormalities among males examined for military service
Authors: Zeuthen Eva , Nielsen Johannes
Published: July 2010

A prevalence study of chromosome abnormalities in a Danish male population of 3,840 conscripts showed a total prevalence for chromosome abnormalities of 4.6Y per 1,000. Only males with small testes, males with a stature >181 cm and mentally retarded males were examined. The prevalence can thus only be expected to be complete for sex chromosome abnormalities and chromosome abnormalities in persons with a mental retardation.

The prevalence of males with 47, XXY was 0.78 per 1,000 and males with 47, XYY as well as males with 47, XY, f21 were round in 1.30 per 1,000.

The prevalence of autosomal marker chromosomes was 5.4 per 1,000, and the prevalence of large Y was 3.9%.
Metachromatic leukodystrophy
Authors: Børresen Anne‐Lise , Hagen C. B. Van Der
Published: July 2010

Very low arylsulphatase A (ARA) activity was found directly in amniotic fluid from two pregnancies where cultured amniotic fluid cells as well as cultured fibroblasts from the aborted fetuses were deficient in ARA. These observations differed significantly from parallel determinations of ARA activity in amniotic fluid, cultured amniotic fluid cells and cultured fibroblasts from the aborted fetuses in normal pregnancies
Chromosome studies in induced abortions
Authors: Hahnemann Niels
Published: July 2010

Chromosome studies in 172 cases 01 induced abortions are reported. The material comprising 212 cultures war obtained from fetal skin, placenta, amnion, mid amniotic fluid cells. Six fetuses with aberrations (3.48 %) were detected, namely two 47,XX, +C, one 47,XX,+E, one 47,XY,+G, one. 46,XX/47,XX,+C, and one 46,XX/47,XX, +G. The average maternal age for the total material was 26.5 years and for the aberrations 33.6 years. The average gestational age for the total material was 12 1/2 weeks and for the aberrations 10 1/2 weeks. The sex ratio was 0.88 for the abortions of the first trimester and 1.30 for those of the second trimester.
Chromosome studies in 5,049 consecutive newborn children
Authors: Friedrich Ursula , Nielsen Johannes
Published: July 2010

Data from a chromosome examination of 5,049 consecutive newborn children are presented. Major chromosome abnormalities were found in 43 (0.85 %) children.

Only 6 of the 43 children were phenotypically abnormal to the extent that they could be diagnosed clinically; these six comprised a girl with Turner's syndrome, a boy with Patau's syndrome and four boys with Down's syndrome. It was remarkable that two male infants with karyo‐types 46,XY,12p‐ and 46,XY/46,XY,5p‐ were normally developed.

Chromosome variants (marker chromosomes) occurred in 87 (1.72 %) of the children. The most common marker chromosomes were Yq+, Yq‐, Dp+ or Ds+ and Gp+ or Gs+ very little is known about the significance of marker chromosomes.

Chromosome examination in newborn children gives the possibility of procuring incidence figures, finding families with translocations, studying segregation rates and giving genetic advice. Follow up studies of children with chromosome abnormalities and marker chromosomes compared with controls as well as treatment of children with chromosome abnormalities whenever possible are also important aspects of such studies.
Theoretical implications of the application of polymorphic protein systems to gene location on a trisomic chromosome, and its application to the haptoglobin phenotype frequencies in Down's syndrome
Authors: Rundle A. T.
Published: July 2010

In this, the first of a series of communications on the application of the study of polymorphic enzyme and protein systems to gene location on a trisomic chromosome, the theoretical implications are considered. Mathematical models for the expected phenotype shift have been examined, and have been expanded to include a three‐allele locus and a three‐allele locus with one allele being of the ‘silent’ variety. Some modifications in the existing mathematical models were necessary due to possible failure of electrophoretic and immuno‐electrophoretic separations to differentiate between some heterozygote forms. The mathematical models have been applied to a series of hi‐allelic polymorphic systems and one tri‐allelic system to determine the minimum number of subjets with trisomy that would be required to establish the presence or absence of a phenotype shift. The additional use of the techniques for estimating the position of the gene with respect to the centromere, and estimating the timing of the non‐disjunction are discussed.

The application of Haldane's log ratio test (1956) involving the combining of the homozygous Corms is considered and applied to the phenotype data on the serum haptoglobins of 254 subjects with Down's syndrome and 853 mentally retarded control subjects.
Bisatellited extra small metacentric chromosome in newborns
Authors: Friedrich Ursula , Nielsen Johannes
Published: July 2010

Among 5,049 consecutive liveborn children in a Danish maternity hospital, three had an extra small bisatellited metacentric chromosome, apparently an isochromosome of the short arms of a D or G group chromosome. In two of the probands' families, the deviating chromosome was inherited through three generations. One proband was a mosaic; her grandmother, mother and one sister had the karyotype 46, XX,9qh+; one of her brothers had the karyotype 46, XY,9qh+, and he had one daughter with the karyotype 46, XX,9qh+ and another daughter who was 45, X.

All the carriers of an extra metacentric chromosome were normally developed, except one proband who died shortly after birth and displayed multiple, internal congenital abnormalities.
A case with 46, XX, del (11) (q21)
Authors: Faust J. , Vogel W. , Löning B.
Published: July 2010

The cytogenetic analysis of a child with unspecific dysplastic signs revealed the karyotype: 46, XX, del(11) (q21). Two hypotheses could explain the mild phenotypical expression of this deletion:

1) The material of the deficient part of chromosome 11 is genetically inert or redundant (which seems unlikely);

2) “Gene‐dosis‐compensation” occurs for the loss of genes on the deficient part of chromosome 11.
A linkage study of phenylketonuria
Authors: Berg Kare , Saugstad Letten Fegersten
Published: July 2010

A search for linkage between phenylketonuria (PKU) and each of the following marker systems has been conducted: ABO, MN, Rh, Kell, Hp, Gc, PGM1. Previous suggestions of linkage between PKU and ABO could not be confirmed.

For the PKU‐PGM1 relationship, lod score values higher than I were found for recombination fractions 0.05 and 0.10, suggesting the possibility of linkage between the two loci. However, more data are needed to settle this question.

Low positive lod scores for higher values of the recombination fraction were found for the PKU‐Rh and the PKU‐Hp relationships. Low positive lod score values were also found for the PKU‐Kell relationship.
Hereditary dextrocardia associated with other congenital heart defects: Report of a pedigree
Authors: Soltan H. C. , Li M. D.
Published: July 2010

A kindred in which four males have been affected with dextrocardia and associated congenital heart defects is presented. The results of cardiac examination of members of this kindred are described. The pedigree suggests X‐linked recessive inheritance. Possible uses of the genetic information in genetic counselling and prevention of congenital heart disease in several branches of this pedigree are demonstrated.
Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients
Authors: Koulischer Lucien , Schoysman Robert
Published: July 2010

Mitotic and meiotic chromoqome studies in 202 consecutive infertile male patients are reported. From our results and those available from the literature, the following conclusions can be drawn. 1. Mitotic chromosome analysis definitely must be included in the laboratory investigations of male infertility; meiotic studies are recommended, especially in patients with a normal somatic karyo‐type and unexplained low sperm counts.

2. About 10% of all patients attending male infertility clinics show a mitotic chromosome abnormality: 6–7% present a Klinefelter's syndrome or its variants, 1–3% have morphological rearrangements of the Y, or sex chromosome mosaicism, and 1–3% present structural autosome rearrangements (translocations, minor variants, etc.). Decreasing sperm counts are associated with an increasing probability of aneuploidy.

3. At present, identified meiotic abnormalities could explain about 2% of male sterilkies in patients with apparently normal somatic chromosomes.
On the relationship between Lp(a) Iipoprotein, “sinking pre‐β‐lipoprotein” and inherited hyper‐β‐lipoproteinaemia
Authors: Heiberg Arvid , Berg Kåre
Published: July 2010

The presence of extra pre‐β‐lipoprotein bands on lipoprotein electrophoretograms has recently been implicated by different workers as a major risk factor in coronary heart disease. We observed such “sinking pre‐β‐lipoprotein” in members of three kindreds which were being studied because of hyper‐β‐lipoproteinaemia with xanthomatosis and coronary heart disease (type IIa hyperlipoproteinaemia). The hyper‐β‐lipoproteinaemia, Lp(a) antigen and extra lipoprotein band segregated in an autosomal dominant fashion in these families. Electrophoretic and immunologic studies confirmed the identity of “sinking pre‐β‐lipoprotein” with the Lp(a) lipoprotein. Presence of “sinking pre‐β‐lipoprotein” reflects high concentration of the Lp(a) lipoprotein. Close genetic linkage between hyper‐β‐lipoproteinaemia and the Lp trait was excluded.

Thus, the present data speak against linkage as well as association between hyper‐β‐lipoproteinaemia as it occurs in the three kindreds and the Lp trait. If the possilble association of Lp(d) lipoprotein with coronary heart diease, as suggested by studies of other workers, is confirmed, the data from the present family study may suggest that the majority of cases of coronary heart disease are genetically distinct from hyper‐β‐lipoproteinaemia of type IIa.
Cerebellar ataxia and total albinism: A kindred suggesting pleiotropism or linkage
Authors: Skre H. , Berg K.
Published: July 2010

In a sibship occurring in a kindred with a high degree of inbreeding, four persons with an auto‐somal recessive type of cerebellar ataxia all had total albinism (tyrosinase‐negative, as judged from investigation of the prohand). Of the five healthy sibs, all had normal pigmentation.

Relatively close genetic linkage between the loci for total albinism and this variant of cerebellar ataxia appears to be a more likely interpretation of the observed distribution than is the possibility of a pleiotropic effect of one mutant gene. However, the linkage scores for this sibship are not sufficiently high to formally prove the existence of linkage, the lod score for a recombination fraction of 0 being 2.4. The case for linkage is not significantly weakened if it is postulated that the phenotype of a paternal aunt who has total albinism hut no neurological disorder reflects one recombinant event, but absolute linkage would then be excluded.

It is necessary to consider the possibility of close linkage, whenever concurrence of otherwise. distinct genetic disorders is observed in one or in a very low number of families, suggesting a “new syndrome”. If the observation in the pedigree studied reflects true linkage between total albinism and cerebellar ataxia, linkage studies with respect to hemoglobin variants are called for in families where these anomalies occur, since non‐α‐hemoglobin loci are linked to albinism in certain other species and there is good reason to believe that there has been a high degree of conservatism in chromosomal evolution.
Increased Q fluorescence of an inactive Xq— chromosome in man
Authors: Sarto Gloria E. , Therman Eeva , Patau Klaus
Published: July 2010

The proposita's main characteristics were primary amenorrhea, lack of secondary sexual development, shortness of stature, and shield chest. Her 46 chromosomes included one normal X and an X chromosome with a partially deleted long arm. The abnormal chromosome was late labeling and formed a smaller than normal Barr body. It was almost always more brightly fluorescent than the normal X chromosome in the same cell, especially in the faintly fluorescent region around the centromere. The short arm of the abnormal chromosome was also significantly shorter than that of the normal X chromosome.
The heritability of serum lipoprotein and lipid concentrations. A twin study
Authors: Heiberg Arvid
Published: July 2010

The genetic influence on serum lipid and lipoprotein levels was estimated in twins. Twin zygosity was confirmed by analysis of at least 19 genetic marker systems in each twin. Fifty pairs of randomly selected, healthy, normolipidemic twins, 18 to 24 years of age, were studied.

Significant differences were found between the inter‐ and intrapair variances for all lipid and lipoprotein parameters in the monozygous twins, and for most values in dizygous twins. The intrapair variances of all lipid and lipoprotein parameters tested were smaller in MZ than DZ twins, and significant differences were found for cholesterol, phospholipids, total lipids, pre‐β‐ and α‐lipoproteins.

H statistics, intraclass correlations and the F ratios all point to a high, but somewhat varying degree of genetic influence on the levels of all serum lipid and lipoprotein concentrations investigated, the genetic effect being particulary pronounced for cholesterol and total lipids.
A patient with a dicentric Y chromosome
Authors: Johnston A. W. , Speed R. M. , Klopper A. , Robinson J. A.
Published: July 2010

A patient with some features of Turner's syndrome, but without evidence of masculinization, is reported. Cytogenetic studies showed 45, X/46, X, dic (Y) (q 1:2) mosaicism. The additional cell lines present, 46, X, del (dic Y); 47, X, dic Y, dic Y; 47, X, dic Y, del (dic Y) and 47, X,del (dic Y), del (dic Y, are attributed to instability of the dicentric Y chromosome.
A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation
Authors: Mulcahy Marie T. , Jenkyn Joy , Masters P. L.
Published: July 2010

An abnormal infant, who died aged 17 d, was found on chromosome examination, to be a partial trisomy C. Clinical and post‐mortem findings are described. Cytogenetic investigation of the family demonstrated the presence of a presumably balanced C/D translocation which had been transmitted through four generations. Fluorescent banding techniques later identified the chromosomes involved in the translocation as being numbers 10 and 13.
Cytogenetics, hormones and behavior disability: comparison of XYY and XXY syndromes
Authors: Money John , Annecillo Charles , Orman Barry Van , Borgaonkar Digamber S.
Published: July 2010

Two populations of phenotypic males, twelve 47,XYY and twelve 47,XXY patients, when compared for behavior disability, sexual practices, and social interaction, revealed that the XYY males had behavior disability involving a predominance of impulsive acting out and poor long term planning. By contrast, the XXY males manifested a deficiency or inhibition of action. With regard to sexual practices, the XYY males reported a greater frequency and diversity of sexual experience and imagery than did the XXY males, who appear to be sexually inert by comparison. For both XYY and XXY men, being alone took preference over group participation. The XXY men were more characterized by inertia and reclusiveness, while the XYY men were mobile and more likely to intrude on other people and their property.
In vitro autoradiographic studies of DNA synthesis in human testis with spermatogenic arrest
Authors: Frajese Gaetano , Santiemma Vittorio , Re Massimo , Bellacicco Antonio , Fabbrini Aldo , Fraccaro Marco
Published: July 2010

The uptake of 3H‐thymidine by spermatogonia and resting spermatocytes was studied by autoradiography in human testis biopsies incubated in vitro from four groups of subjects: normal, prepuberal (hypogonadotropic hypogonadism), with spermatocytic arrest and with spermatidic arrest. In the prepuberal group there was a very low DNA synthesis rate. In the spermatidic arrest group the number of DNA synthesizing cells was higher than that of the normal control group while in the spermatocytic arrest group it was lower. These results indicate a possible different pathogenesis for the two forms of spermatogenic arrest. In the spermatocytic arrest there is a primary deficiency of germ cells synthesizing DNA, while in the spermatidic arrest, synthesis is active and the arrest is probably due to an enzymatic (?) metabolic block.
A possible major contribution to mental retardation in the general population by the gene for microcephaly
Authors: Qazi Qutub H. , Reed T. Edward
Published: July 2010

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 microcephaly.
A new form of hereditary short limbed dwarf ism with microcephalus
Authors: Juberg Richard C. , Ness Madge B. Van
Published: July 2010

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 unusual.
Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi
Authors: Fitzgerald P. H. , Donald R. A.
Published: July 2010

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.
Elevated levels of alfa fetoprotein in maternal serum and amniotic fluid in two cases of spina bifida
Authors: Malmqvist E. , Lindsten J. , Nørgaard‐Pedersen B. , Hellström B. , Sundberg B.
Published: July 2010

Therapeutic abortions were performed in two cases of spina bifida which were diagnosed by determination of the alfa fetoprotein levels in the amniotic fluid and maternal serum.
The Unique Green phenomenon and colour vision
Authors: Cobb Stephen R.
Published: July 2010

The mode of inheritance of the Unique Green phenomenon is investigated by a new technique. This involves a spectrometer which generates the stimulus in such a manner that the exact position that is neither blue‐green nor yellow‐green can be compared with neighbouring positions in the spectrum. This technique is used in conjunction with the single field techniques of Waaler to confirm the mode of inheritance he has suggested: that it is an effect carried on the X chromosome. The placing of the Unique Green point in the spectrum is shown to correlate with the mid‐matching point in the blue‐yellow axis on the Pickford Nicolson Anomaloscope. It is concluded that there may be a highly photolabile visual pigment present, which absorbs maximally at about the yellow region of the spectrum.
Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)
Authors: Yanagisawa Satoshi , Yokoyama Hiroshi
Published: July 2010

A girl is presented with “isochromosome” X mosaicism, 45, X/46, X, i(Xq)/47,X,i(Xq),i(Xq). The “isochromosome” had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.
Investigation on Huntington's disease
Authors: Shokeir M. H. K.
Published: July 2010

The possible biochemical basis underlying the aetiology and pathogenesis of Huntington's disease (H.D.) is discussed. The development of a predictive test for presymptomatic detection of the disorder, based on measurement of serum caeruloplasmin and serum dopamine β‐hydroxylase (DBH) is also described. Possible means of appraising the proposed test are suggested.
The pathological anatomy of the Smith‐Lemli‐Opitz syndrome
Authors: Cherstvoy E. D. , Lazjuk G. I. , Lurie I. W. , Nedzved M. K. , Usoev S. S.
Published: July 2010

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 confirmed.
Nomenclature: Additional chromosome bands
Authors: Skovby Flemming
Published: July 2010

Additional interstitial and telomere bands in human chromosomes are described using the R‐banding technique. Some telornere hands show similarities to terminal Q‐bands reported in the chimpanzee.
Further studies of Lp(a) lipoprotein/pre‐β1,‐lipoprotein in patients with coronary heart disease
Authors: Dahlén G. , Frick M. H. , Berg K. , Valle M. , Wiljasalo M.
Published: July 2010

The present study of 100 patients (46 of whom were included in a previous study) with suspected or proven coronary heart disease (CHD) confirms that Lp(a) lipoprotein and pre‐β1lipoprotein are closely related, if not identical, and that Lp(a) lipoprotein/pre‐β1lipoprotein occurs more frequently in patients with CHD than in healthy people. Analysis of this lipoprotein component may have predictive value with respect to CHD.
Adducted thumb syndromes
Authors: Fitch Naomi , Levy Edith P.
Published: July 2010

The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dys‐myelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re‐assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome and in sex‐linked hydrocephalus, (2) the genetic heterogeneity of the clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex‐linked hydrocephalus.
Variation in the centromeric banding of chromosome 19*
Authors: Crossen Peter E.
Published: July 2010

The centromeric banding pattern of chromosome 19 exhibited considerable variation. The variants were present in the majority of cells from an individual and consisted of additional dark‐staining areas. There was no abnormal phenotypic effect associated with any variant and it is concluded that these additional dark‐staining areas do not contain any functional genes.
Plasma lipoprotein abnormalities in a case of primary high‐density‐lipoprotein (HDL) deficiency
Authors: Utermann G. , Menzel H. J. , Schoenborn W.
Published: July 2010

A 53‐year‐old patient with primary HDL‐deficiency is reported. About 2% of the normal concentration of alpha1 HDL was present in his plasma. The alphal‐high‐density‐lipopro‐teins separated into two fast‐moving components in polyacrylamide gel electrophoresis. The Apo HDL contained both the main apolipoproteins, Apo A‐I and Apo A‐II, but in dis‐proportionally reduced amounts, the concentration of Apo A‐I being reduced about 360‐fold, and that of Apo A‐II about 14‐fold. Concomitantly, the amount of the Apo C polypeptides in the HDL‐fractions was decreased to about 5.5% and the activity of the enzyme lecithin cholesterol acyltransferase (EC 2.3.1.4.3) in plasma was found to be only 40% of normal. Apoprotein D was present in the LDL in association with Apo B, forming an abnormal, fast‐moving LDL‐complex.

Apo A‐I and Apo A‐II were both of normal size as determined by SDS‐PAGE, and reduction with thiols resulted in the shift of the M.W. of Apo A‐II from 17,000 daltons to about 8,500 daltons. Both proteins were found in the same position as their normal counterparts in analytical isoelectric focusing.

The most likely explanation for the multiple lipoprotein abnormalities seems to be that a defect in the regulation or structure of Apo A‐I is the basis of the HDL‐deficiency.
Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus*
Authors: Lowry R. B. , Wood B. J.
Published: July 2010

This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X‐linked, or autosomal recessive in origin.
Fetal loss and familial chromosome I translocations*
Authors: Garrett John H. , Finley Sara C. , Finley Wayne H.
Published: July 2010

A structural abnormality of chromosome No. 1 was found in two families who had a history of repeated abortions. The propositus in Family H was a low birth weight, malformed infant who had a partial trisomy of 1q. His mother and a sibling were balanced carriers of a t(1;4) (q25;q35). In family B, the 29‐year‐old phenotypically normal propositus and his mother were found to be balanced carriers of a t(1;12) (p13;q24). It is suggested that the fetal wastage in both families was related to the abnormal karyotypes of the parents. These two families also provide an opportunity to further understand the effect of an abnormality of chromosome number 1 on phenotype.
Variable expression of Marfan syndrome in monozygotic twins
Authors: Ambani Lalit M. , Gelehrter Thomas D. , Sheahan Daniel G.
Published: July 2010

A pair of monozygotic twins with the Marfan syndrome with variable expression is presented. One of the twins, in addition to more severe musculoskeletal and ocular manifestations, had coarctation of the aorta as the cardiovascular manifestation of this syndrome. Analysis of red cell antigens, serum proteins and dermatoglyphic examination suggests a high probability of monozygosity. Accordingly, the variation in expression of this autosomal dominant disorder between the twins is most likely due to the modifying influences of environmental factors. Also noteworthy is the fact that the resected coarctation tissue domonstrated the histopathologic changes characteristic of cystic medial necrosis, and thus served as an additional piece of evidence supporting the diagnosis of the Marfan syndrome. This was of particular importance in view of the absence of any family history of this syndrome and the absence of ectopia lentis or the more typical cardiovascular manifestations in either twin.
A rapid micro culture method of chromosome preparations from fibroblasts and amniotic cells*
Authors: Singh Surjit , Willers Ingrid , Schloot Werner , Goedde H. Werner
Published: July 2010

A micromethod enabling the making of chromosome preparations from fibroblasts and amniotic cells cultured on surface‐treated Microtest II plates is presented. Preparations from each well contain sufficient metaphases to perform a reliable diagnosis. The potential for the use of this method in early prenatal diagnosis is discussed.
A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly*
Authors: Christian J. c. , Franken E. A. , Lindeman J. P. , Lindseth R. E. , Reed T. , Scott C. I.
Published: July 2010

A mother and daughter with metacarpal and metatarsal asymmetry, tarsal and carpal fusions, long bone articular dysplasia and platyspondyly are reported as a possible autosomal dominant syndrome affecting skeletal development. The asymmetry of the second metacarpals is perhaps the most striking finding and resulted in a range of bone lengths in the two individuals from minus 6.3 to plus 3.7 standard deviations from the mean.
Familial translocation, t(2;5)(p23;q31)
Authors: Osztovics Magda , Kiss Péter
Published: July 2010

A reciprocal translocation, t(2;5) (p23;q31) was found in healthy individuals through two generations of a family. The balanced aberration resulted in a derivate chromosome 2 in two malformed offspring in the third generation. The family was ascertained through the two unbalanced carriers whose phenotypic abnormalities resembled those of two other offspring who died prior to the cytogenetic examination.
Partial trisomy 15 in a young girl
Authors: Mankinbn Carl B. , Holt J. Gordon , Sears Joseph W.
Published: July 2010

Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low‐set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX, + 15, del(15)(q15).
Familial short atrioventricular conduction time (P‐R interval)
Authors: Møller Pål
Published: July 2010

Five sibs with related parents are presented. All the sibs have short atrioventricular conduction time (P‐R interval). The short P‐R interval is probably an inherited feature in the family.
Infantile XX male: A case report
Authors: Miyashita Atsushi , Isurugi Koichiro , Aoki Hiroko
Published: July 2010

A case of infantile XX male syndrome with bilateral scrotal testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism or Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either grossly or microscopically. Furthermore, exploratory laparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized.
A simple, rapid method for prenatal detection of defects in propionate metabolism
Authors: Morrow Grant , Revsin Betty , Mathews Catherine , Giles Harlan
Published: July 2010

Incorporation of radiolabel from propionate‐l‐i4C into protein (TCA insoluble material) in fibroblasts or amniotic fluid cells, provides a rapid, simple means of detecting fetuses with inborn errors of propionate metabolism using small numbers of cells. Controls were easily differentiated from mutant lines over differing media pH conditions. This method was successfully used to diagnose correctly a normal fetus at risk for methylmalonic acidemia. This method can be used as an adjunct in diagnosis, but cannot replace direct enzyme analysis.
Alpha‐1‐antitrypsin (Pi) types in Down's syndrome
Authors: Arnaud Philippe , Burdash N. M. , Wilson G. B. , Fudenberg H. H.
Published: July 2010

Alpha‐1‐antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty‐six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The significance of an M variant phenotype in some patients with Down's syndrome is not completely understood and is currently under investigation. Since the majority of the patients had a normal alpha‐1‐antitrypsin phenotype, the results of this study indicate that a deficiency in alpha‐1‐antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome.
Interstitial deletion of the long arm of chromosome no. 7 (7q‐) in an infant with multiple anomalies
Authors: Higginson Grant , Weaver David D. , Magenis R. Ellen , Prescott Gerald H. , Haag Claudia , Hepburn Douglas J.
Published: July 2010

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low‐set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.
A three chromosome translocation involving two homologous chromosomes in a trisomic abortus
Authors: Creasy M. R. , Crolla J. A. , Polani P. E. , Elliott M. H.
Published: July 2010

An abortus with a primary trisomy 21 cell line and a cell line with a translocation between a chromosome 2 and two No. 21's is described. Both parents were chromosomally normal. Some implications of the interchange are discussed.
Dominant ichthyosis vulgaris with an ultrastructuraally normal granular layer
Authors: Fitch Naomi , Segool Richard , Ferenczy Alex , Cohen Howard
Published: July 2010

It has been suggested that ultrastructural studies of keratohyalin granules in the granular layer of the skin can clearly distinguish the dominant type from the X‐linked recessive type of ichthyosis vulgaris. The distinctive features are found in the granular layer and the keratohyalin granules. In the dominant form the granular layer is absent or reduced in size and the keratohyalin granules are minute and crumbly in appearance. In the recessive form the granular layer and keratohyalin granules are normal.

A family which probably has dominant ichthyosis vulgaris is described. The stratum granulosum and keratohyalin granules as determined by both light and electron microscopy are normal. In view of the inconstant morphologic appearance of the stratum granulosum in ichthyosis vulgaris, it is suggested that distinction between the dominant and X‐linked forms should not be based on the structural characteristics of the granular layer alone, but rather on a combined evaluation of the pedigree, clinical features and the appearance of the stratum granulosum.
Identical tetramelic monodactyly in two brothers
Authors: Svejcar Jirí , Kleinebrecht Jürgen , Degenhardt Karl‐Heinz
Published: July 2010

We report almost identical tetramelic monodactyly in two brothers. On the hands and on the feet, only the 5th fingers and the 5th toes were present. Aplastic and hypoplastic defects were found to some degree in the remaining skeletal parts of the hands and feet. All observed deformities were symmetrical. No other defects of either the upper or the lower extremities were found. Both brothers had no other malformations or dysplasias and were apparently of normal intelligence. There were no further cases in the ancestry.
A case of trisomy 20?
Authors: Wahlström Jan , Borsgård Jan , Sabel Karl‐Göran
Published: July 2010

Chromosome determination in a girl who at birth had an abnormal appearance and a cat's cry, and later a poor weight gain and psychomotor retardation, showed a probable trisomy of chromosome pair no. 20. The analysis was made by means of photometric examination of G‐banded chromosomes from lymphocyte cultures. The deviating chromosome was identified in fibroblast cultures as well.
Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period
Authors: Gustavson K.‐H. , Jorulf H.
Published: July 2010

During a 4x‐year period a special study of 207 consecutive perinatal deaths, including clinical, genetical, roentgenological and autopsy investigations, was undertaken with the aim of identifying inherited malformations with a high risk of recurrence to subsequent sibs. Fifty‐three of the children dying perinatally were malformed. In 13 cases the cause of the malformation was purely genetic; 11 were caused by mutant genes of large effect, and two by chromosomal aberrations. Information from such a study provides a good basis for genetic counselling of the family.
X‐linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings
Authors: Abe K. , Matsuda I. , Matsuura N. , Murayama T. , Uzuki K. , Endo M. , Miyakoshi M. , Okuno A.
Published: July 2010

Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism.
Trisomy 21 in mother and daughter
Authors: Francesconi D. , Guaschino S.
Published: July 2010

A 28‐year‐old woman with trisomy 21 had a daughter with trisomy 21. This case brings the total to 23 mothers recorded as having trisomy 21. Their offspring consist of 14 normals and 10 trisomics, 21 born at term, plus 3 abortions. The proportions of normal and trisomic offspring are about equal.
45, XO/46, XYq dic mosaicism in a patient with ambiguous genitalia
Authors: Tuncbilek Ergul , Halicioglu Charlotte , Bobrow Martin , Ustay Kemal
Published: July 2010

45, XO/46, XYq dic mosaicism was found in a patient with ambiguous genitalia. The patient had dysgenetic testis and gonadoblastoma.

The same mosaicism was found in skin and gonadal tissue cultured fibroblasts. Localization of the genes related to height and male determination is discussed.
Familial carcinoma of the pancreas*
Authors: Friedman J. M. , Fialkow Philip J.
Published: July 2010

A sibship is reported in which four brothers died of adenocarcinoma of the pancreas in the seventh or eighth decade of life. None of the patients had a history of pancreatitis, other malignant neoplasms, or exposure to a known pancreatic carcinogen. This family seems to exhibit a genetic predisposition to pancreatic carcinoma late in life, but the mode of inheritance and the relative importance of genetic and environmental factors in the development of these tumors are unclear.
Lp(a) Lipoprotein/pre‐β1‐lipoprotein, serum lipids and atherosclerotic disease
Authors: DAHLEN G. , BERG K. , FRICK M. H.
Published: July 2010

With appropriate electrophoretic techniques and fresh serum samples, the Lp(a) lipo‐protein/pre‐β1‐lipoprotein is demonstrable as a distinct zone in the area between β1‐lipo‐protein and ordinary pre‐β1‐lipoprotein, when sera which are strongly positive with respect to the Lp(a) antigen are analyzed. The Lp(a) lipoprotein is a genetically determined normal serum component.

The phenotype Lp(a+) was found significantly more frequently in two series of patients with coronary heart disease (CHD) than in appropriate controls. The frequency difference between patients and controls was particularly pronounced for the Finnish samples studied, 55 % of the patients having the phenotype Lp(a +), as opposed to only 31 % of the healthy controls. As judged from electrophoresis strips, high concentrations of Lp(a) lipo‐protein/pre‐β1‐lipoprotein were positively correlated with coronary score as determined by angiography. This correlation was highly significant.

Total serum cholesterol value was slightly higher in Lp(a +) than in Lp(a‐) persons from two of the four population samples studied, but no statistically significant difference was found. Serum triglyceride levels exhibited a statistically insignificant trend towards higher values in Lp(a‐) than in Lp(a+) individuals, in three of the four samples tested.

The strong association between the phenotype Lp(a+) and CHD, as well as the correlation between high amounts of Lp(a) lipoprotein/pre‐β1‐lipoprotein and coronary score on one hand, and the weak correlation between presence of Lp(a) lipoprotein/pre‐β1‐lipoprotein and lipid values on the other, make it highly unlikely that the increased frequency of the Lp(a+) phenotype in CHD patients merely reflects an over‐all increase of the intravascular pool of LDL and/or VLDL reflected in increased serum levels of cholesterol and/or triglycerides. By the same token, it is unlikely that the insignificant effect on lipid values can, on its own, explain the correlation between Lp(a) phenotype and CHD.
The distribution of the third complement component and other polymorphic traits in rheumatoid arthritis
Authors: Harada Shoji , Mano Kenji , Miyamoto Terumasa , Horiuchi Yoshihiko , Ohhata Nobuko , Misawa Shogo
Published: July 2010

The distribution of C'3 phenotypes in 61 seropositive rheumatoid arthritis patients and 464 normal blood donors in Tokyo was examined by high‐voltage agarose gel electro‐phoresis. The allele of the common European variant, C3F, is absent in Japanese, but another F allele, C3Frare, is present with a frequency of 0.025 and 0.013 in RA patients and blood donors, respectively; the difference is not statistically significant.

The distribution of phenotypes for several other enzyme systems was also determined in an attempt to detect association with RA. Again, no statistically significant differences were found.
β‐Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1‐gangIiosidosis
Authors: Koster J. F. , Niermeijer M. F. , Loonen M. C. B. , Galjaard H.
Published: July 2010

Biochemical data are presented of a 29‐year‐old male, who shows progressive psychomotor retardation and a β‐galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1‐gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.
Tricho‐dento‐osseous syndrome: A scanning electron microscopic analysis
Authors: Melnick Michael , Shields Edward D. , El‐Kafrawy A. H.
Published: July 2010

A large kindred of which multiple members have the Tricho‐dento‐osseous syndrome is presented. This is an autosomal dominant disorder characterized by defective enamel, taurodontia, unusually curly hair and occasionally mild to moderate skeletal osteosclerosis. Histologic investigation of teeth (by both LM and SEM) demonstrated that there is a uniformly thin enamel covering with randomly distributed depressions and pits. The mineral content of this enamel is closer to that of the underlying dentin, which accounts for its lack of radiographic contrast. The dentin was normal. A bizarre finding is that of a periradicular sheath or membrane that enclosed the open apices and extended partway up the root. It was composed of collagen fiber bundles. The anatomical position of this membrane suggested that it may represent the developing periodontal ligament seen in early tooth formation. Recent embryologic evidence provides support for mesenchymal culpability for all reported features of the syndrome.
Dermatoglyphic patterns in trisomy 8 syndrome*
Authors: Rodewald A. , Zankl H. , Wischerath H. , Borkowsky‐Fehr B.
Published: July 2010

Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (x̄= 96.06), high palmar (92.9%) and plantar (100%) pattern intensity, a distally placed axial triradius (62.5%), loop with accessory triradius in an interdigital area (91.7%), thenar (68.2%) and hypothenar (50.0%) patterns, simian crease (47.1%), bilateral arches on the great toes (88.9%) and hallucal‐whorl (72.2%). A distinctive feature was the presence of zygodactylous triradii z, z and z (100%) on the soles of the feet, and deep skin furrows on the palms and soles (68.2%). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome.
Familial occurrence of chromosome variant 17ph+
Authors: Kubień Elźbieta , Kleczkowska Alicja
Published: July 2010

A structural chromosome variant 17ph+ was found in a high genetic risk family. The authors consider the possibility of a causal connection between minor structural changes in the karyotype and congenital defects appearing in one member of the family.
Bloom's syndrome in two Dutch families
Authors: Hustinx T. W. J. , Haar B. G. A. Ter , Scheres J. M. J. C. , Rutten F. J. , Weemaes C. M. R. , Hoppe R. L. E. , Janssen A. H.
Published: July 2010

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun‐sensitivity of the skin; and decreased immuno‐competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome.

The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister‐chromatid exchanges per cell.
Male with 45, X karyotype
Authors: Forabosco A. , Carratu A. , Assuma M. , Pol A. De , Dutrillaux B. , Cheli E.
Published: July 2010

A 5‐month‐old male child with the clinical stigmata of Turner syndrome, bilateral testes and a non‐mosaic 45, X karyotype in blood and skin tissue is presented. This is the second case reported in the literature of an “XO‐male” with normal external genitalia.