bluuebunny/crossref_metadata_2025 huggingface dataset:
The dermatoglyphic pattern of the trisomy 9p syndrome
Authors: Rodewald A. , Stengel‐Rutkowskii S. , Zankl M.
Published: July 2010

This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatoglyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits constitute the combination of dermatoglyphic patterns that is specific to trisomy 9p: an excess of arches on the fingertips and toes, a low total finger ridge count, the absence of digital triradii b and c, and the presence of zygodactylous triradii z, z‘ and z“, a simian crease, a single crease on the 5th finger, a hypothenar crease, a distally placed axial triradius t’, a proximal or tibial arch or both on the hallux, and increased intensity of the plantar patterns. A “phantom picture” is constructed, which can be used for dermatoglyphic diagnosis of the trisomy 9p syndrome.
Confirmation of an influence of the inherited Lp(a) variation on serum insulin and glucose levels
Authors: Dahléni Gösta , Berg Kare
Published: July 2010

Previously reported analyses on three different series of people suggested that fasting serum insulin levels are lower in males with (high levels of) serum Lp(a) lipoprotein (Lp(a +)) than in males without detectable Lp(a) lipoprotein (Lp(a —)). The same was observed during an oral glucose tolerance test. Also, blood glucose concentrations tended to be lower in males with high levels of Lp(a) lipoprotein than in those in whose serum no Lp(a) lipoprotein could be detected. In this paper, we present data which appear to confirm the previously reported results.

A significant correlation was found between the fasting triglyceride level and the sum of insulin values determined during the oral glucose tolerance test in healthy Lp(a —) but not in Lp(a+) individuals.

The present data, together with those previously reported on an effect of the Lp(a) locus on serum lipid levels and on propensity to contract coronary heart disease, indicate that the genetically determined Lp(a) lipoprotein may be of considerable clinical importance
Antenatal diagnosis in three pregnancies at risk for mannosidosis
Authors: Poenaru Livia , Girard Sylvte , Thepot François , Madelenat Patrick , Huraux‐Rendu Christiane , Marie‐Claude Vinet  , Dreyfusi Jean‐Claude
Published: July 2010

Three pregnancies were monitored in two families at risk for mannosidosis. a mannosidase and a fucosidase were determined on extracts from white blood cells of several members of these families, on fibroblast cell lines from the index cases and on uncultured and cultured amniotic cells of the foetuses. Two foetuses were diagnosed as affected and one as being free from the disease. The conclusions were confirmed on the affected foetuses after interruption of the pregnancy. The noticeable residual activity of a mannosidase found in some fibroblasts and cultured amniotic cells required complementary investigations (heat lability and dependency of substrate concentration) to reach a reliable diagnosis. Investigation of uncultured amniotic cells may give useful additional information.
A rapid and simple Sandwich‐Method used for chromosome analysis from small fetal and adult biopsy specimens
Authors: Bullerdiek Jöhn , Bartnitzre Sabine , Schloot Werner
Published: July 2010

A new Sandwich‐Method is described which uses aborted material and yields a high frequency of metaphases. Chromosome studies may be performed after 7–8 days without sub‐culturing. It is possible to freeze the original tissue for later cell culture.
Positive H‐Y antigen testing in a case of XY gonadal absence syndrome
Authors: Schulte Michael‐JÖRG
Published: July 2010

H‐Y antigen testing was positive in a case of pseudohermaphroditism due to XY gonadal absence syndrome. In conclusion, H‐Y antigen may be present even in the absence of testes. Also, the syndrome could not have originated from a defect in the H‐Y antigen system.
Platelet monoamine oxidase in a pedigree with schizophrenia: an interlaboratory project
Authors: Ask Anna–Lena , Böök Jan A. , Heyden Thomas , Ross Svante B. , Unge Christina , Wetterberg Lennart , Eiduson Samuel , Kobayashi Kiyofumi
Published: July 2010

Conflicting reports on the association between platelet MAO activity and schizophrenia prompted a critical review and determinations on identical samples at one laboratory in Sweden and one in the USA. Samples originated from eight schizophrenics and 27 relatives belonging to a large pedigree, thus ensuring biological homogeneity.

In the USA laboratory, a significantly lower MAO activity was found in the schizophrenics when benzylamine or β–phenylethylamine was used as substrate (but not with trypt–amine), while a similar result was obtained in the Swedish laboratory when tryptamine was used (but not with benzylamine or (β–phenylethylamine). Comparisons between materials examined in different laboratories do not seem meaningful until differences in methodologies have been clarified. At present there is neither proof nor disproof of MAO being a “genetic marker” for vulnerability to the schizophrenic disorder.
Analysis of family resemblance for lipids and lipoproteins
Authors: Iselius Lennart
Published: July 2010

A path analysis of published reports on family resemblance reveals an important role for genetic factors in all lipids and lipoproteins, with no evidence of a discrepancy between twins and other relatives (which might be due to dominance or epistasis) nor between studies which used enrivonmental indices and those which did not.

Family environment within population is less important and is significantly greater for twins than for other relatives.
Benign sickle cell disease in Saudi Arabia: survival estimate and population dynamics
Authors: Gelpi A. P.
Published: July 2010

A survey of 8,084 adult Saudi male employment applicants yielded 872 with the sickle cell trait (AS) and 51 with sickle cell disease. Based on the known distribution of hemoglobin S genes between oasis and non–oasis populations in Saudi Arabia, and on calculation of the expected number of abnormal homozygotes within the non–oasis and oasis subgroups as well as the entire employment applicant group, it appears that virtually 100 % of Saudis with SS disease survive to adult life. Saudi Arabs and other Caucasian populations in the Middle East exhibit a benign type of SS disease as compared with Blacks in Africa and the Americas. In the Middle East, gene contributions from SS individuals will shift equilibrium frequencies to higher levels than encountered in Black populations under sustained selective pressures, and the polymorphism will tend to be stable with decline in selective pressure. There are some indications that the hemoglobin S gene may have been a recent import into the Middle East.
Hereditary hypoceruloplasminemia
Authors: Edwards C. Q. , Williams D. M. , Cartwright G. E.
Published: July 2010

Serum ceruloplasmin values of <21.0 mg/100 ml in males or <23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results in hypoceruloplasminemia. This mutant gene could be a Wilson's disease gene, but excessive copper loading was absent. It is suggested that hereditary hypoceruloplasminemia may be a benign entity distinct from Wilson's disease.
Trisomy 13 in bone marrow cells in acute myelocytic leukemia and myelofibrosis
Authors: Hsu Lillian Y. F. , Greenberg Michael L. , Kohan Simona , Wittman Ruth
Published: July 2010

We have identified trisomy 13 in two additional patients with hematologic malignancies involving the hematopoietic stem cell: a 75–year–old female with acute myelocytic leukemia and a 64–year–old female with agnogenic myelofibrosis and myeloid metaplasia. Chromosome analysis of the direct bone–marrow preparation showed 100 % of cells with trisomy 13 in the first and 10 % of cells in the second. We also previously reported a patient with Phi negative chronic myelogenous leukemia in whom 100 % of the marrow cells showed an identical trisomy. The probability of finding three such patients in our case material was calculated to be 0.05–0.08, implying that trisomy 13 may be another nonrandom chromosomal aberration associated with malignancies of hematopoietic pluri–potent stem cell.
Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas
Authors: Riccardi Vincent M. , Hittner Helen Mintz , Francke Uta , Pippjn Susan , Holmquist Gerald P. , Kretzer Frank L. , Ferrell Robert
Published: July 2010

This report compares the pathogenetic influences of selective deletion and triplication of chromosome 13 derived from a familial 12; 13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46, XY, del (13) (pter → q12.5::q22.→qter)mat], and in his sister the relatively modest effects of triplication of the mid–portions of 13q are demonstrated [46, XX, ins(12;13) (12pter→–12pll.2::13q22.1→13q12.5::12pll.2→12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about the breakpoints.
Genetic studies in a family with inverted nipples (mammillae invertita)
Authors: Shafir R. , Bonne–Tamir B. , Ashbel S. , Tsur H. , Goodman R. M.
Published: July 2010

A Jewish Sephardi family is reported in which 16 members are affected (15 females and 1 male) with inverted nipples. The one affected male and his brother also have gynecomastia. Under the assumption that this trait is transmitted as an autosomal dominant, linkage studies were done but were not revealing. Further family and investigative studies are needed in this disorder to understand better its pathogenesis and precise mode of genetic transmission.
Prenatal diagnosis of severe congenital malformations associated with elevated amniotic fluid alpha–feto protein
Authors: CHEMKE J. , NlSANl R. , KASSIF R. , LANCET M. , BEISER R. , HURWITZ N.
Published: July 2010

Two cases of severely malformed infants with abnormal fetal images on B–scan sonography and markedly elevated amniotic fluid AFP are presented. There was no evidence of neural tube anomalies. The importance of an amniocentesis and AFP in pregnancies with an abnormal fetal image on B–scan sonography is emphasized, taking into consideration that most pregnancies with elevated fluid AFP have serious fetal anomalies.
Bloom's Syndrome. VII. Progress report for 1978
Authors: German James , Bloom David , Passarge Eberhard
Published: July 2010

The Bloom's Syndrome Registry was published in this journal in 1977. Now, in the first in a series of progress reports, recent accessions to the Registry are recorded, new instances of neoplasia are listed, and recent clinical observations and experimental results of general interest are cited.
Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus
Authors: KLEIJER W. J. , MOOY P. D. , LIEBAERS I. , KAMP J. J. P. VAN DE , NIERMEIJER M. F.
Published: July 2010

An abnormal level of 35S‐sulfate labeled mucopolysaccharides was found in cultured amniotic fluid cells from a pregnancy, at risk for the Hunter syndrome, with a female fetal karyotype. Subsequent prenatal analyses suggested heterozygosity for the X‐linked Hunter syndrome, and this was confirmed by clonal analysis of fibroblasts of the child after birth. The possible implications of abnormal biochemical results in association with a female karyotype in the prenatal diagnosis of the Hunter syndrome are discussed.
Uttrastructure of skin biopsy specimens in lysosomal storage diseases: Common sources of error in diagnosis
Authors: Sipe Jack C. , O'Brien John S.
Published: July 2010

Common sources of error in the diagnosis of lysosomal storage diseases by ultrastructural examination of skin specimens have been identified in a series of biopsies from 72 patients. Four principal factors have emerged as leading pitfalls and sources of error in diagnosis. First, the skin biopsy technique itself may lead to alterations of normal skin ultrastructure. Second, artifacts may be produced during fixation and preparation of tissue for electron microscopy. Third, cellular organelles and structures normally present in human skin may be mistakenly interpreted as pathological. Fourth, the use of cultured skin fibroblasts for ultrastructural identification of storage material is often accompanied by artifacts induced in tissue culture and is not recommended. Recognition of these common problems may aid interpretation of the fine structure of skin abnormalities. Furthermore, when skin biopsy specimens are used as the primary source of diagnostic material, correlation of both skin ultrastructure and assay for specific lysosomal enzymes in cultured dermal fibroblasts will facilitate diagnostic accuracy.
A simple method to detect linkage for rare recessive diseases: An application to juvenile diabetes
Authors: Suarez Brian K. , Hodoe Susan E.
Published: July 2010

A simple procedure designed specifically to detect linkage for rare recessive diseases is described. The method uses information on identity by descent scores for a pair of sibs at a marker locus conditioned on the number of affected sibs in the pair. A procedure for estimating the recombination fraction is described, and a table facilitating the likelihood ratio test of linkage is provided.

The method, when applied to a collection of multiplex families segregating for juvenile diabetes mellitus, suggests the possibility that this disease is linked to the HLA complex. The method is found to compare favorably to the maximum likelihood approach, for which the computer program LIPED gives a maximum lod score of 2.48 at a male and female recombination fraction of 8 = 0.20.
Electronic data processing in the Danish Cytogenetic Central Register and EDP problems of registers in general
Authors: Videbech Poul , Nielsen Johannes
Published: July 2010

A brief introduction to the Danish Cytogenetic Central Register (DCCR) is given, and possibilities, principles and problems concerning the establishment and maintenance of a national cytogenetic register are presented.

Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR.

The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing.

Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented.
Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation
Authors: Hernández Alejandro , Olivares Francisco , Cantú José‐María
Published: July 2010

This report describes and discusses the occurrence in two sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with one previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.
Monoamine oxidase and catechol‐o‐m ethyl transferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch‐Nyhan syndrome and healthy controls
Authors: Singh Surjit , Willers Ingrjd , Kluss Eva‐Maria , Goedde H. Werner
Published: July 2010

Monoamine oxidase (MAO) and catechol‐o‐methyl transferase (COMT) activities have been measured in fibroblasts from nine healthy controls, three patients with maple syrup urine disease (MSUD) and six patients with Lesch‐Nyhan syndrome. Both A and B types of MAO activity are found in these cell lines. In comparison to controls, the MAO activity is significantly reduced in cells from patients with Lesch‐Nyhan syndrome. A different situation has been observed in the cell lines from MSUD patients: one showed a high MAO activity, another a significantly reduced activity, and the third was in the range of the normal controls. COMT activity is also present in these cells, but with a wide variation. No specific differences have been noted among the controls and the mutant cells.
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal‐ spondyloperipheral dysplasia
Authors: Sybert V. P. , Byers P. H. , Hall J. G.
Published: July 2010

Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic Brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of Brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease.
Trisomy 20q due to maternal t(16;20) translocation First case
Authors: Pawlowitzki I. H. , Gröbe H. , Holzgreve W.
Published: July 2010

Trisomy for the long arm of chromosome 20 is described in a severely affected 11‐month‐old girl. Her mother is heterozygous for a balanced t(16;20) translocation.
Glucose‐6‐phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications
Authors: Schiliro G. , Russo A. , Curreri R. , Marino S. , Sciotto A. , Russo G.
Published: July 2010

This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Gal6P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.
Melkersson‐ Rosenthal's syndrome in four generations
Authors: Lygidakis C. , Tsakanikas C. , Ilias A. , Vassilopoulos D.
Published: July 2010

Melkersson‐Rosenthal's syndrome is a rare condition, the hereditary nature of which is still in dispute. A family with seven affected members in four generations is described, which provides further evidence for the genetic basis of the syndrome.
C‐band polymorphism in human chromosome no. 6
Authors: Madan K. , Bruinsma A. H.
Published: July 2010

Chromosome analysis of G‐banded cells from 92 individuals consecutively referred to the Cytogenetics Laboratory show that the paracentromeric band in the short arm (6pll), which stains negatively with G‐banding and darkly with C‐banding, shows a marked increase in size in about 9 % of chromosomes no. 6. The results of this study and those from a family in which two variants of chromosome no. 6 are segregating are compatible with a Mendelian pattern of inheritance.
Orientation of major histocompatibility (MHC) genes relative to the centromere of human chromosome 6
Authors: Barker E. , Pearson P. L. , Khan P. Meera , Schreuder G. M. TH. , Madan K.
Published: July 2010

Linkage analysis of the data obtained from a three‐generation Dutch family segregating for genetic variants of centromeric heterochromatic region in the band pi 1 on chromosome 6 (6ph), major histocompatibility (MHC) genes HLA‐A, HLA‐B and HLA‐C, glyoxalase I (GLO) and phosphoglucomutase‐3 (PGMg) showed that the genetic distance between the HLA gene cluster and 6ph is about 6 cM (at an estimated peak lod score of 3.466), that GLO is closer than HLA to the centromere and that PGM3 is probably not situated on the same chromosomal arm as HLA.
XY gonadal dysgenesis associated with hGH and gonadotrophin deficiencies
Authors: Kauli Rivka , Pertzelan Athaija , Prager‐Lewin Ruth , Maimon Zipora , Ovadia Jardena , Laron Zvi
Published: July 2010

A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual coincidence of pituitary insufficiency with XY gonadal dysgenesis, evidently the first to be reported.
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients
Authors: Norio Reijo , Koskiniemi Marjaleena
Published: July 2010

In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22 %, were consanguineous; several of the parents were related and the geographical distribution was of the uneven type typical of young, isolated populations in Finland. The incidence in Finland was estimated to exceed 1:20,000.

The clinical picture in the Finnish PME patients was uniform, being identical with that of Unverricht's and Lundborg's patients, but clearly distinct from Lafora disease. The following classification of PME is proposed: (1) PME, Lafora type: onset of grand mal attacks and/or myoclonus around the 15th year of life; rapid and severe mental deterioration, often with psychotic symptoms; short survival; histological finding of Lafora bodies; autosomal recessive inheritance. (2) PME, Unverricht‐Lundborg type: onset around the 10th year of life; severity variable, progressive invalidity from myoclonic features associated with mild mental symptoms, time of survival variable, “degenerative” histological changes; autosomal recessive inheritance. (3) Autosomal dominant or otherwise atypical cases of PME.

The importance of accurate diagnosis is stressed.
Two XX male brothers
Authors: Minowada Shioeru , Kobayashi Katsumi , Isurugi Koichiro , Fukutani Keiko , Ikeuchi Hiroko , Hasegawa Tomoko , Yamada Kiyomi
Published: July 2010

Two brothers with XX male syndrome with penoscrotal hypospadias are reported. Chromosomal analysis of cells from the peripheral blood, skin, and testes revealed a normal female karyotype in both subjects. Biopsy of both testes in the brothers showed histological features of normal immature testes and no evidence of ovarian structures. Neither vagina, uterus nor fallopian tubes could be detected either by exploratory laparotomy or retrograde urethrography. Results of endocrine studies on serum gonadotropins (LH and FSH) and testosterone levels as well as their responses to LH‐RH and hCG stimulation tests were normal for age. Studies of various genetic markers, including the Xg blood type and erythrocyte enzymes, were performed in the probands and their parents. Possible explanations for the paradoxical occurrence of testes in XX males and for the familial occurrence are discussed.
Pi phenotypes of alpha1‐antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies
Authors: Arnaúd Philippe , Galbraith Robert M. , Faulk W. Pagé , Black Carol
Published: July 2010

Phenotypes of alpharantitrypsin (A1AT) were determined by isoelectric focusing in blood samples from 926 healthy Caucasians living in South‐West England. Three subtypes of the most common allele product (M), designated Ml, M2, and M3, were identified. Routine determination of these subtypes should considerably amplify the usefulness of the A1AT polymorphism in population genetics and, in view of the possible association of clinical disorders with heterozygous deficient M phenotypes, may enhance the value of Pi determinations in clinical genetics.
Nonketotic hyperglycinemia A genetic study of 13 Finnish families
Authors: Wendt L. V. , Hirvasniemi A. , Similä S.
Published: July 2010

In Finland, 19 children, born 1964–1977, from 13 families, have been diagnosed as suffering from nonketotic hyperglycinemia (NKH). This gives an incidence for NKH in the Finnish population of 1:55,000 newborns. The majority of these children were born in the northern part of the country, where the incidence is 1:12,000. The geographical distribution of the birth‐places of the grandparents also seems to point towards an enrichment of the gene in northern Finland. An autosomal recessive mode of inheritance for this disease seems probable, since the corrected proportion of affected siblings (Apert's a priori method) is 0.288. Abnormally high plasma glycine concentration and elevated glycine urinary excretion in the parents of the NKH‐children suggest the existence of a minor metabolic defect in heterozygotes of this disease. Some of the healthy siblings of the NKH‐patients also show similary elevated levels. However, a definite diagnosis of the NKH‐heterozygote state cannot easily be made on the basis of these laboratory findings, as the levels in some individuals are very close to, or even overlap corresponding values in a normal material.
Description of chromosome banding patterns by band transition sequences
Authors: Lundsteen Claes , Granum Erik
Published: July 2010

For visual and automated analysis of banded human chromosomes, the band pattern features of chromosome profiles considered essential for the cytogeneticist were evaluated. These features were found to be related to each peak (dark band) and its adjacent valley (light band) in the direction p – q. A method for extracting and describing these features was developed and implemented on a computer. The method determines three normalized parameters for each peak and adjacent valley: (1) density of peak; (2) density difference (transition) between peak and valley; and (3) position of peak. Each profile is described by a simple sequence of band transitions (BT‐sequence). The BT‐sequence was visualized as a profile (BT‐profile) using only the information retained in the BT‐sequence. Visual classification of BT‐profiles shows error rates comparable to visual classification of ordinary density profiles (Lundsteen & Granum 1979). It is therefore concluded that the BT‐profiles do retain the important band pattern features of the profiles, and it is supposed that the simple and condensed BT‐sequences constitute an appropriate basis for automated karyotyping.
Visual classification of banded human chromosomes
Authors: Lundsteen Claes , Granum Erik
Published: July 2010

Band transition profiles (BT‐profiles) representing extracted band pattern features of 898 density profiles of banded chromosomes were classified and karyotyped by a cytogeneticist in order to investigate how much information was lost by substituting for the original density profiles their extracted features. The results were evaluated and compared with visual classification and karyotyping of the same 898 density profiles from which the BT‐profiles were derived.

Six per cent errors were made in classification of isolated BT‐profiles and 0.7 % errors were made in karyotyping BT‐profiles. These error rates were comparable to the corresponding error rates in classifying and karyotyping density profiles, which were 5 % and 0.5 %, respectively.

It is concluded that most of the important band pattern information of the density profiles is retained in the BT‐profiles, and it is supposed that the condensed BT‐sequences (from which the BT‐profiles are derived) constitute a sufficient and appropriate basis for automated karyotyping.
Trisomy 20 mosaicism in amniotic fluid cell culture
Authors: Nevin N. C. , Nevin J. , Thompson W.
Published: July 2010

Chromosomal mosaicism in cultured amniotic fluid cells presents one of the most difficult problems in prenatal diagnosis in predicting the foetal phenotype. We present a case in which trisomy 20 mosaicism was diagnosed prenatally but not confirmed in the aborted foetus.
A study of possible heterogeneity in Duchenne muscular dystrophy
Authors: Emery Alan E. H. , Skinner Rosalind , Holloway Susan
Published: July 2010

One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X‐linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub‐divided into those with and without severe mental handicap. In those with severe mental handicap, ages at onset and of becoming confined to a wheelchair were later, the fall in SCK level with age was less marked, and the urinary excretion of certain aminoacids was greater than in affected boys with normal intelligence. Though the number of subjects investigated was relatively small (15 in each group) and further studies are therefore needed, the results suggest that DMD may not be a single disease entity.
The technical variables associated with the frequencies of QFQ, RFA and CBG heteromorphisms of human chromosomes
Authors: Verma Ram S. , Dosik Harvey
Published: July 2010

In the 1971 Paris Conference (1972) it was established that certain regions of human chromosomes show remarkable heteromorphisms. These are the short arm of acrocentric chromosomes, the secondary constriction regions of chromosomes 1, 9, 16, and the distal 2/3rd of the long arm of the Y and the centromere of chromosomes 3, 4, and 5. There are several technical variables which affect the frequency of these heteromorphisms. These include quality of culture, age of slide, photography (filter, etc.), method of printing and method of scoring (criteria). Several other variables in the production of QFQ, RFA, and CBG heteromorphisms are discussed. In order to compare results from different laboratories these variables must be taken into consideration.
Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome
Authors: Curry Cynthia J. R. , Loughman William D. , Francke Uta , Hall Bryan D. , Golbus Mitchell S. , Dersttne Judy , Epstein Charles J.
Published: July 2010

This report describes a family in which eight individuals in three generations had mental retardation in association with a characteristic pattern of clinical problems and physical abnormalities including short stature, eczema, hernias, delayed puberty, dysmorphic facies and digital anomalies. The family history was consistent with a chromosomal rearrangement with transmission through balanced carriers. Routine ASG banding studies showed extra chromosomal material on a chromosome 16 but failed to demonstrate any differences between the affected individuals and the presumed carriers. However, subsequent studies utilizing trypsin banding and microspectrophotometry of individual chromosomes demonstrated that the affected individuals were partially trisomic for the distal band of the long arm of chromosome 5 and that 0.273 units of a chromosome 5 were translocated to chromosome 16. This definitive cytogenetic diagnosis permitted accurate prenatal diagnosis to be carried out on the fetus of a balanced carrier female. The application of these techniques to previously obscure familial dysmorphic syndromes is recommended.
Prenatal diagnosis of the Meckel syndrome
Authors: Nevin N. C. , Thompson W. , Davison G. , Horner W. T.
Published: July 2010

Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, Polydactyly, and bilateral polycystic kidneys. This case report emphasises the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosed in utero.
Human gene mapping by postreduction and recombination frequencies under complete interference
Authors: Ott Jurg
Published: July 2010

Gene‐centromere distances can be estimated (i) by determining postreduction frequencies by means of ovarian teratomas and (ii) by analysis of genetic linkage between a gene locus and a structural chromosome polymorphism near the centromere. The two methods are compared under complete interference. It is shown that the teratoma method is at least twice as efficient as the recombination method. Two estimates of the map distance for a combination of both data types are derived.
Chromosome breaks and sister chromatid exchanges in albinos in Nigeria
Authors: Cervenka Jaroslav , Witkop Carl J. , Okoro Anezi N. , King Richard A.
Published: July 2010

The prevalence of squamous cell carcinoma of the skin in albinos reaches approximately 90 % in patients over 20 years of age in the vicinity of Enugu, Nigeria. Chromosome breaks and sister chromatid exchanges (SCE) were evaluated in tyrosinase‐positive oculocutaneous albinos and pigmented controls of Ibo extraction who were life‐long residents of Nigeria. No difference in the frequency of chromosomal breaks in 14 albinos compared to 6 pigmented controls, and no differences in the frequency of SCE in 9 albinos compared to 3 controls could be detected. Increased chromosomal abnormalities in lymphocytes do not appear to be associated with albinism or fulminating skin cancer present in albinos in the tropics.
No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome
Authors: Burns Jane L. , Hall Judith G. , Powers Ellen , Callis James B. , Hoehn Holger
Published: July 2010

Why the frequency of spontaneous abortions among monosomy X conceptuses is 98 % while the postnatal course of Turner syndrome is relatively benign has not been understood. One explanation could be that mosaicism for a euploid cell line confers viability and that those 2 % of 45, XO zygotes surviving in utero have some degree of mosaicism. We thus reasoned that if the non‐mosaic 45, XO karyotype is lethal, a thorough study of living Turner syndrome patients might reveal a much higher frequency of mosaicism than the 30–40 % reported. Ten adult women with a45, XO leukocyte karyotype were investigated, looking at five tissue types from all three germ layers: buccal mucosa and hair from ectoderm, urinary epithelium from endoderm and ectoderm, and lymphocytes and skin fibroblasts from mesoderm. We were unable to confirm mosaicism in these patients, although in 2 out of 10 there was the suggestion of a small percentage of euploid cells in skin and blood karyotypes.
α1‐Antitrypsin deficiency in twins and parents‐of‐twins
Authors: Lieberman Jack , Borhani Nemat O. , Feinleib Manning
Published: July 2010

Serum‐trypsin‐inhibitory‐capacity (STIC) and ai‐antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents‐of‐twins. An increased prevalence (17.0–21.9%) of intermediate AAT deficiency (STIC < 0.95 units/ml) was detected in both of these groups as compared to a prevalence of 4.1 % in 1,841 healthy controls. PiS and PiZ molecular variants of AAT were also found more frequently in the twin and parent groups, but this was not statistically significant. Low levels of protease inhibition may enhance fertility and a tendency towards twinning, since proteolytic enzymes are involved in fertilization of ova by sperm and in gametogenesis. Increased fertility and twinning may be heterozygous advantages for AAT deficiency.
Polymorphism of apolipoprotein E
Authors: Utermann G. , Vogelberg K. H. , Steinmetz A. , Schoenborn W. , Pruin N. , Jaeschke M. , Hees M. , Canzler H.
Published: July 2010

Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E‐D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteinemia type III). Vertical transmission of dysbetalipoproteinemia represents pseudodominance due to the high frequency of the gene Apo Ed. Dysbetalipoproteinemia is already expressed in childhood.

To assess the influence of other genes on the expression of hyperlipidemia in phenotype Apo E‐D, comparative studies were carried out in kindreds of hypercholesterolemic (group A) and normo‐ or hypocholesterolemic probands with dysbetalipoproteinemia (group B). This demonstrated the occurrence of familial (non‐type III) forms of hyperlipidemia in group A but not in group B kindreds. Distribution of lipoprotein pheno‐types in five of the group A kindreds was consistent with the occurrence of familial combined hyperlipidemia. Apo E phenotypes and hyperlipidemia segregated independently.

It is concluded that primary dysbetalipoproteinemia is a frequent monogenic variant of lipoprotein metabolism, but not a disease. Coincidence in one individual of genes for this specific dyslipoproteinemia with any of the genes for monogenic or polygenic forms of familial hyperlipidemia results in hyperlipoproteinemia type III. Hence hyperlipoproteinemia type III is caused by at least two non‐allelic genes and is a polygenic disorder.
Polymorphism of apolipoprotein E
Authors: Utermann G. , Pruin N. , Steinmetz A.
Published: July 2010

The two autosomal codominant alleles of the Apo E‐N/D polymorphism, Apo E and Apo E(1, have a considerable influence on plasma lipid levels and distribution in man.

Serum cholesterol levels are highest in phenotype Apo E‐N, intermediate in phenotype Apo E‐ND, and low in phenotype Apo E‐D. Contrary VLDL‐cholesterol is highest in phenotype Apo E‐D, intermediate in heterozygotes, and lowest in phenotype Apo E‐N. Serum‐triglyceride, VLDL‐triglyceride and the ratio of VLDL‐cholesteroI/serum‐triglyceride are also intermediate in phenotype Apo E‐ND between the two opposite homozygous groups. 10 % of heterozygous Apo E‐ND subjects exhibited a β‐VLDL subfraction compared to 0.8 % in phenotype Apo E‐N and 100%in Apo E‐D.

Hence the three phenotypic groups exhibit metabolic differencesin vivo, and the gene Apo E'l has a mild dyslipoproteincmic effect even in a single dose. The Apo E‐N/D polymorphism may therefore be a major influence on the occurrence of arteriosclerotic vascular disease in man.
Dermatoglyphics in parents of children with trisomy 21
Authors: Ayme Ségolène , Mattei Mark‐Genevieve , Mattei J. F. , Aurran Yvette , Giraud F.
Published: July 2010

Dermal patterns in a group of Down's syndrome patients, a normal control population and a group of parents of Down's syndrome patients were studied in an attempt to identify an Index Score to be used in differentiating controls from parents of Down's syndrome children. Using only three patterns (simian crease, palmar hypothenar pattern and Cummins' Index), a parents' Index Score was established which correctly diagnosed 80.83 % of controls and 79.17 % of parents. The predictive value of this index and its interest in genetic counselling are discussed.
Familial middle lobe bronchiectasis
Authors: Hoo Joe Jie
Published: July 2010

A rare familial occurrence of middle lobe bronchiectasis is reported in two siblings of a family with seven children. No definite cause for the development of bronchiectasis could be established. Enlarged hilar lymph nodes were found in the resected middle lobe which were compressing the middle lobe bronchus, and this may have contributed to the development of bronchiectasis.
A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes
Authors: Fitzgerald P. H. , Donald R. A. , Kirk R. L.
Published: July 2010

A 16‐year‐old male with hypospadias and gynaecomastia had a rudimentary uterus with a right Fallopian tube and ovary; the left gonad was a functioning testis. Cytogenetic studies showed cells with46, XX and46, XY sex chromosomes in cultured blood, skin and gonadal tissues. Cells with the46, XX constitution predominated in all tissues. Extensive investigations failed to demonstrate blood cell and serum chimerism, but there was little genetic variation of these characters between family members. Cytogenetic studies demonstrated that the father had contributed different marker chromosomes to the46, XY and46, XX cell lines of the propositus, whereas the mother had contributed the same two informative markers to both cell lines. The patient was a chimera with two diploid cell lines of different sex that had developed from the products of two separate acts of syn‐gamy. Dispermy was demonstrated, and, whereas there was no evidence of different maternal contributions to the chimeric cell lines, uncertainty remains that these were identical.
Isolated congenital ectopia lentis with autosomal dominant inheritance
Authors: Jaureouy Beth M. , Hall Judith G.
Published: July 2010

Although autosomal dominant inheritance of isolated ectopia lentis has been described, the literature contains old and unclear reports concerning the evaluation of skeletal or metabolic abnormalities. We report a family in which congenital isolated ectopia lentis occurs in five members of two generations in a pattern consistent with autosomal dominant inheritance.
Analysis of a follow‐up study of genetic counseling
Authors: Abramovsky Idida , Godmilow Lynn , Hirschhorn Kurt , Smith Harry
Published: July 2010

A follow‐up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non‐directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary results have been reported previously (Godmilow & Hirschhorn 1977). Of those families surveyed, 72% responded. Adequate recall of the genetic information was demonstrated by 74% of those responding, and 80% described their counseling experience as favorable. A direct relationship was noted between the degree of satisfaction and whether or not the counselees received the mode of counseling they preferred, i.e., individual versus team. Sixty‐two percent of those counselees reaching a procreative decision indicated that genetic counseling had influenced their decision making. A significant correlation was noted between the magnitude of the occurrence or recurrence risk and the procreative decisions reached. However, some decisions were modified by the counselees' subjective interpretation of the burden associated with the disorder in question.

It is concluded that follow‐up of genetic counseling by questionnaire, together with statistical analysis of the data received, can provide the genetic center with valuable information regarding strengths and weaknesses of the counseling program and can suggest ways to improve the counseling process and thereby enhance its effectiveness.
Familial hyper‐alpha‐lipoproteinemia in 26 kindreds
Authors: Siervogel R. M. , Morrison J. A. , Kelly K. , Mellies M. , Gartside P. , Glueck C. J.
Published: July 2010

The inheritance of familial hyper‐alpha‐lipoproteinemia was investigated in 161 individuals in 11 black kindreds and 15 white kindreds. After age and sex adjustment, the distribution of high density lipoprotein‐cholesterol (C‐HDL) in the relatives of probands was examined for evidence of bimodality. In whites, bimodality appeared to be present, with one mode at about 46 mg/dl and the other at about 69 mg/dl. In blacks, there was little convincing evidence of bimodality. In the white kindreds, it appeared that one factor with a relatively large effect is causing the familial aggregation of high C‐HDL levels; this factor could be a major gene.
Congenital heart disease with del(15q) mosaicism
Authors: Herva Riitta , Vuorinen Olli
Published: July 2010

A male infant with mosaic interstitial deletion of 15q is described. He had some dys‐morphic features and complicated congenital right side heart disease.
48, XYY,+13 Karyotype in a liveborn infant
Authors: Crolla John A. , Machin Geoffrey A.
Published: July 2010

A liveborn male infant, with typical features of trisomy 13, was found to have a combined autosomal and gonosomal trisomy, 48,XYY, + 13. To our knowledge, this is the first report of co‐existing 13 trisomy and XYY chromosome complement.
Sialidosis: delineation of subtypes by neuraminidase assay
Authors: O'Brien John S. , Warner Thomas G.
Published: July 2010

A sensitive assay for acid neuraminidase using 4–methylumbelliferyl‐α‐D‐N‐acetylneura‐mink acid is described. In skin fibroblasts, patients with sialidosis Types 1 and 2 have severe deficiencies of neuraminidase activity compared with controls. Patients with Type 1 sialidosis have activities which are 10 times higher than those with Type 2 sialidosis, in keeping with their milder clinical involvement. Two Italian patients with Type I sialidosis had a Km which was one‐sixth normal; the other patients had a Km in the normal range.
Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus
Authors: Hananian J. , Cleaver J. E.
Published: July 2010

A patient is described who has a unique combination of symptoms that correspond with two sun‐sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematows (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among U.S. blacks, thus far, although African black cases are known. Her DNA repair levels are 20–30% of normal, within the range found for many XP cell cultures and consistent with her assignment to group C by other investigators. Unusual for group C cases, however, are the neurological disorders, some of which correspond to those found in the de Sanctis Cacchione form of XP, which is commonly assigned to group A. Whether the associated SLE is a consequence of some special aspect of this particular XP condition or whether it is fortuitous cannot be resolved at present.
Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata
Authors: Manzke H. , Christophers E. , Wiedemann H.‐R.
Published: July 2010

This paper suggests that there is probably a dominant, sex‐linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include crythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with chondrodysplasia punctata reported in the literature belong to the dominant sex‐linked type.