bluuebunny/crossref_metadata_2025 huggingface dataset:
Peculiar face, pectus carinatum and joint laxity in brother and sister
Authors: Guízar‐Vázquez J. , Sánchez Gladys , Manzano Carlos
Published: July 2010

This report describes a probably new syndrome seen in a brother and sister and characterized by joint laxity, pectus carinatum and a peculiar face with mild frontal bossing, low nasal bridge, lateral displacement of the inner canthi, malar hypoplasia, parrot‐like nose, chubby cheeks, striking philtrum and arched upper lips.
X‐linked Dyggve‐Melchior‐Clausen syndrome
Authors: Yunis Emilio , Fontalvos Justo , Quintero Luis
Published: July 2010

Ten affected males studied from four generations of a Colombian family with Dyggve‐Melchior‐Clausen (DMC) syndrome are described. The ages of the affected males varied from 13 to 50 years and they presented with typical clinical and radiological manifestations of the syndrome. The association of normal intelligence and a clear X‐linked recessive inheritance in this family is evidence of heterogeneity in the Dyggve‐Melchior‐Clausen syndrome. In agreement with previous reports for DMC dwarfism, this new form has normal mucopolysaccharide excretion.
Distal osteosclerosis
Authors: Beighton P. , Macrae M. , Kozlowski K.
Published: July 2010

Hyperostosis of the bones of the forearms and lower legs and mild cranial sclerosis were present in five persons in two generations of a South African kindred of mixed ancestry. This disorder, which is clinically innocuous, is inherited as an autosomal dominant trait. Delineation of this disorder to distinguish it from the other inherited sclerosing bone dysplasias permits accurate prognosis and genetic counselling. In view of the unusual anatomical distribution of the abnormalities, the designation “distal osteosclerosis” is proposed for this entity.
Interstitial deletion of the long arm of chromosome 1, del(1)(q21‐q25) in a profoundly retarded 8‐year‐old girl with multiple anomalies
Authors: Schinzel A. , Schmid W.
Published: July 2010

An 8‐year‐old girl revealed the karyotype 46, XX,del(l)(q21 → q25). Both parents had normal chromosomes. The patient showed the following findings: underweight at birth, severe growth deficiency (at 7 9/12 years, length, weight and head circumference were at the levels of 24, 18 and 6 months, respectively), delayed bone age; bilateral cleft lip and cleft palate; a pattern of facial dysmorphic stigmata including a short, bulbous nose, exotropia, anisocoria, absence of some teeth, poorly modeled auricles; very small hands and feet with short fingers and toes, and broad thumbs and big toes exhibiting dysplastic, hyperconvex nails; in radiographs multiple phalangeal cone‐shaped epiphyses, bifid terminal phalanges of the thumbs and half‐moon shaped terminal phalanges of the big toes and absence of the 12th ribs. The patient suffered from seizures and from recurrent otitis and pyuria. Motor and mental development were profoundly delayed: at 8 years she was unable to sit up, had no speech and barely responded to her environment. As the proband and her parents were Fya/Fyb, location of the Duffy locus on segment 1q22 → 1q24 can be excluded.
The secretor status of the foetus
Authors: Gibson Sheila L. M. , Ferguson‐Smith M. A.
Published: July 2010

One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and saliva correlated in 98 % of cases. It is felt that contamination with blood is likely to be the main source of error in typing amniotic fluids. However, because of the weaker activity of the anti‐H serum, the detection of the presence or absence of H‐substance can be doubtful if duplicate tests are not carried out. It is recommended that all fluids be checked for contamination with blood and that duplicate assays be done on two successive occasions. If these precautions are taken, the secretor typing of the amniotic fluid accurately reflects the secretor status of the individual foetus. Though probably not of wide application, the test could be of value in prenatal detection of dystrophia myotonica in individual cases.
Hereditary colon cancer syndromes: an in vitro study
Authors: Danes B. Shannon , Bülow Steffen , Svendsen Lars BO
Published: July 2010

Assays of in vitro biological properties associated with cellular transformation revealed differences in cultured skin cells within the heritable colon cancer syndromes with and without polyposis coli. Such evidence suggested that an in vitro panel of biological assays could be used to recognize genotypes which increase the risk of colon cancer prior to clinical expression and supported the concept, long assumed on clinical differences, of genetic heterogeneity within the heritable colon cancer syndromes.
The camptomelic syndrome in two female siblings
Authors: Mellows Heather J. , Pryse‐Davies J. , Bennett M. J. , Carter C. O.
Published: July 2010

A patient is reported whose only two pregnancies resulted in phenotypically and geno‐typically female infants with camptomelic syndrome of the long‐limbed variety. Both infants died within a few minutes of birth.
Fetal gonadal histology in XXXXY, XYY and XXX syndromes
Authors: Autio‐Harmainen H. , Rapola J. , Aula P.
Published: July 2010

During a 3‐year period in which 1500 amniotic fluid samples were studied, six cases of sex chromosome abnormality were detected antenatally: two with XXX, three with XYY and one with XXXXY sex chromosome constitution. After careful counselling, the parents in each case chose termination of the pregnancy, which was performed at the 20th week of gestation. All fetuses appeared normal and showed no gross malformations. Histologic investigation of the gonads of the XXXXY, one XYY and one XXX fetus showed a normal overall picture. The number of spermatogonia in the seminiferous tubules of the XXXXY male fetus was markedly reduced and the testes of the XYY fetus also contained less spermatogonia than testes from control fetuses.
Trisomy 18q‐. Trisomy mapping of chromosome 18 revisited
Authors: Turleau C. , Chavin‐Colin F. , Narbouton R. , Asensi D. , Grouchy J. DE
Published: July 2010

Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q –) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q– resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less severe vital prognosis.
Binary developmental commitments in normal and abnormal human morphogenesis
Authors: Friedman J. M.
Published: July 2010

An hypothesis is presented to account for the occurrence of overlapping patterns of anomalies in various malformation syndromes. According to this proposal, normal human morphogenesis occurs by means of a series of sequential commitments by neighboring groups of cells to alternative developmental programs.
Three levels of G‐band differentiation
Authors: Sit K. H.
Published: July 2010

G‐band “fusions” in the more contracted chromosomes, and G‐band “splittings” in the longer chromosomes, have been cited directly or by implication to be natural cyclical states of human chromosomes. This report presents three levels of G‐band differentiation produced by a single technique, and compares them with three corresponding levels of R‐band differentiation reported by others. It argues for the possibility of artifactual band “fusion” mechanisms in the more contracted chromosomes.
Prenatal diagnosis of the prune belly syndrome
Authors: Bovicelli Luciano , Rizzo Nicola , Orsini Luigi Fiuppo , Michelacci Laura
Published: July 2010

A male fetus with prune belly syndrome was diagnosed by ultrasound at 30 weeks of gestation. The diagnosis was confirmed after birth.
Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2
Authors: Baccichetti Carlo , Lenzini Elisabetta , Pesericoi Andrea , Tenconi Romano
Published: July 2010

Pericentric inversion of chromosome 2 was detected in four unrelated families. All these inversions involved the segment p11←q13. The pedigree data are considered in comparison with other cases reported in the literature. Segregation data and possible reproductive failures are discussed.
Hereditary urogenital adysplasia
Authors: Schimke R. Neil , King Charles R.
Published: July 2010

A family is reported in which three‐generation transmission of renal agenesis‐dysplasia occurred without any skeletal defects, but with uterine anomaly. The term, hereditary urogenital adysplasia is suggested and the mode of inheritance is discussed.
Prenatal diagnosis of a de novo reciprocal translocation 46,XX,t(1;18) (p22;q23)
Authors: Bovicelli L. , Orsini L. F. , Rizzo N. , Montacuti V. , Bacchetta M.
Published: July 2010

A case is reported in which a de novo balanced translocation 46,XX,t(l;18Xp22;q23) was diagnosed prenatally.
Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases
Authors: Winter Robin M. , Crawfurd Martin D'A. , Meire Hylton B. , Mitchell Nan
Published: July 2010

Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre‐Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination.
Familial pterygium syndrome
Authors: Stoll C. , Levy J.‐M. , Kehr P. , Roth M.‐P.
Published: July 2010

Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion deformities of the limb joints and anomalies of the vertebrae. Eight other cases are known. The condition is inherited in an autosomal recessive mode.
Intrafamilial associations of cholesterol and triglyceride among related and unrelated household members
Authors: Morrison John A. , Laskarzewski Peter M. , Khoury Philip , Samuels Steven J. , Kelly Kathy K. , Mellies Margot J. , Glueck Charles. J.
Published: July 2010

The purpose of this report was to assess intrafamilial associations of lipids between related and unrelated household members seen in the course of a population‐based survey of lipids in schoolchildren and their parents. Fasting plasma total cholesterol and triglyceride levels were measured in 6,857 children and 3,079 adults. Age effects were removed for each sex‐race group using a third‐degree polynomial regression of lipid on age; the residuals were then used as observations in the analyses. For both cholesterol and triglyceride, significant positive correlations existed between father and son, father and daughter, mother and son, and mother and daughter. For both cholesterol and triglyceride, although the mother‐child correlations were stronger than those for father‐child, they were not significantly different. There were no significant correlations between step, foster, or adoptive parents and children. For cholesterol in sibships of size two, intrasibship correlations for fully related siblings were 0.333, for half‐sibs 0.164, and for unrelated sibs, 0.085. Consistently closer intrafamilial cholesterol and triglyceride associations between related than unrelated family members, and the strong parental effects on cholesterol and triglyceride indicate, in aggregate, that a considerable proportion of the variation of cholesterol and triglyceride can be explained by genetic factors.
Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation
Authors: Caskey C. Thomas , Nussbaum Robert L. , Cohan Leslie C. , Pollack Lynda
Published: July 2010

The mechanism of inheritance of sporadically occurring Duchenne muscular dystrophy has been investigated in 42 families, using carrier detection methods and genetic evaluation. Our studies find that serum CPK detects 72 % of female carriers of DMD. Quantitative LDH and/or its isozymes were not found to be a useful means of carrier detection, as reported by Roseset al.(1977). Employing family pedigree data and CPK carrier testing, we determined by Bayesian methods the probability that the mother and maternal grandmother in these families were DMD carriers. These studies revealed 23 families (Category I) with no evidence for DMD carriers, 11 families (Category 11) in which the mother was found to be a carrier, and 3 families (Category III) in which both mother and maternal grandmother were found to be carriers. Nineteen of the 42 families have a greater than 83 % probability that the sporadic DMD case arose by mutation in a maternal gamete. This finding is in good agreement with the theoretically expected ⅓ of DMD cases arising by new mutation.
A and B Postaxial polydactyly in two members of the same family
Authors: Ventruto V. , Theo G. , Celona A. , Fioretti G. , Pagano L. , Stabile M. , Cavaliere M. L.
Published: July 2010

Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and B types of postaxial polydactyly are caused by a single gene rather than by two different genes.
Partial trisomy 1 (q42→ter)
Authors: Leisti J. , Aula P.
Published: July 2010

Clinical findings on three closely related, severely malformed infants and a 20‐week‐old fetus with an identical partial trisomy of chromosome 1 (1q42→ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures and fontanels, characteristic facial features, colobomata of the iris, small hands and feet, and early death.
Somatic cell genetic studies of the cystic fibrosis mucociliary inhibitor
Authors: Mayo Brenda J. , Klebe Robert J. , Barnett Don R. , Lankford B. J. , Bowman Barbara H.
Published: July 2010

A series of cystic fibrosis homozygous fibroblast X mouse cell hybrids were constructed in order to determine the chromosome which carries the gene controlling the cystic fibrosis mucociliary inhibitor (CFMI) phenotype. Several hybrids and their subclones retained the CFMI phenotype for long periods in cell culture. Correlation of the CFMI phenotype with the presence of specific human chromosomes indicated that possible linkage existed between CFMI and human chromosomes 2, 4, 6, 10, and 18. The strongest chance of linkage existed for chromosome 4.
Lymph vessel defects in patients with ovarian dysgenesis
Authors: Vittay P. , Bösze P. , Gaál Magdolna , László J.
Published: July 2010

Lymphangiography of the lower extremities was performed in 21 patients with ovarian dysgenesis. Seventeen subjects turned out to have hypoplastic superficial lymph vessels of the lower limbs. Aplasia of the lymphatics of the legs occurred in four instances. Hypoplastic lymph pathways were also observed in the pelvis and in the retroperitoneal space. Although the impairment of the lymphatic channels occurred in all cases of ovarian dysgenesis, it appears that it is more severe in patients with streak gonads. There was no correlation between the lymphatic defect and the karyotype. Patients with and without lymphedema had similar lymphatic defects. Our findings suggest that hypoplasia of the superficial lymph vessels of the lower limbs is a common abnormality in patients with ovarian dysgenesis irrespective of their chromosomal complements. The hypothesis that lymphedema in ovarian dysgenesis is mainly attributable to hypoplasia of the lymphatic channels is supported by this study. However, it appears that other factor(s) may also play a role in the pathogenesis of the lymphedema, since, despite lymphatic hypoplasia, lymphedema does not develop in all instances.
Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling
Authors: Burdick Allan B. , Owens Lester A. , Peterson Charles R.
Published: July 2010

We have examined a pedigree in which familial spastic paraplegia (FSP) is segregating in four generations. The data show a high rate of transmission of the trait, late onset, reduced penetrance, variable age and symptom expressivity, and an autosomal dominant mode of transmission. A summary of our data together with the FSP data of others shows a 1:1 transmission from males and from females, and an overall 1:1 transmission ratio. The risks for the children of symptomatic and non‐symptomatic parents are illustrated.
Spondylocostal dysostosis in South African sisters
Authors: Beighton P. , Horan F. T.
Published: July 2010

The clinical and radiographic features of two sisters with a severe form of spondylocostal dysostosis (SCD) are described and depicted. Autosomal recessive inheritance is likely.
Familial additional chromosomal fragment ascertained in amniotic cell culture
Authors: Haas‐Andela H. , Hansen S. , Foerster W. , Fuhrmann W.
Published: July 2010

A case with a prenatally diagnosed, additional metacentric chromosomal fragment is reported. Investigation of other family members showed that the fragment must be present in at least three generations. The pregnancy was continued and a healthy girl was born.
In utero diagnosis of achondrogenesis, type I
Authors: Smith Wilbur L. , Breitweiser Thomas D. , Dinno Nuhad
Published: July 2010

A series of three infants with achondrogenesis, all born to the same mother, are reported. The third case was diagnosed in utero.
A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q)
Authors: Hornstein L. , Soukup S.
Published: July 2010

A case of partial duplication 13q14 → qter is reported in a 9‐year‐old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qter;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.
Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter)
Authors: Stamberg J. , Shapiro J. , Valle D. , Kuhajda F. P. , Thomas G. , Wissow L.
Published: July 2010

We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with this chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46, XY,‐22, der(22), t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.
HLA profile and Reiter's syndrome
Authors: Schultz Jane S. , Good Armin E. , Sing Charles F. , Kapur Janet J.
Published: July 2010

The analysis of the clinical and HLA profiles of 99 patients with Reiter's syndrome is reported. Antigen HLA‐B27, which has previously been firmly associated with Reiter's syndrome, predisposes patients to develop disease features which reflect articular involvement. The HLA haplotype A2, B27 was found to be at an elevated frequency in our Reiter's syndrome sample, and the latter two antigens are also associated with a general increase in disease severity. Conversely, antigen BW35 appears to be protective against certain features of the syndrome. Patients with certain antigenic profiles (namely A2 and A3 together with B27) tend to develop certain syndrome manifestations earlier in the course of the disease than those with other antigens.
Klinefelter's syndrome with a 47, XXY, inv (12) (q15q24) karyotype
Authors: Singh Roderick P.
Published: July 2010

A case of Klinefelter's Syndrome with a paracentric inversion in chromosome 12 is described. The karyotype was determined to be 47, XXY, inv(12)(q15q24) and the significance of the breakpoints on chromosome 12 is discussed.
An unusual form of metachromatic leukodystrophy in three siblings
Authors: Yatziv S. , Russell A.
Published: July 2010

An unusual form of Metachromatic Leukodystrophy (MLD) has been described in three siblings who are the sole children of related parents of Iranian origin. Clinical progression in the three siblings was insidious and protracted, the hallmark of the condition being a dystonia mainly induced by intention and manifested by dysarthria and torsion spasm of the neck, spine and extremities. The dysarthria sometimes culminated in apparent choreo‐athetosis. Laboratory studies included positive sural nerve biopsies, prolonged nerve conduction times and a marked deficiency of arylsulfatase A in the urine, leukocytes and fibroblasts. The parents presented no clinical manifestations, but the arylsulfatase A activity in both was reduced by 50 %.
46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome
Authors: Casey Pamela A. , Clark Constance E. , Cowell Henry R.
Published: July 2010

A 15‐year‐old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY, + 8 chromosome complement with the characteristic clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.
Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)
Authors: OORTHUYS J. W. E. , SLATER R. M. , BARROWCLOUGH H. , KLEINE M. J. K. DE
Published: July 2010

A patient with several congenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype46,X,der(X),t,X;3)(Xqter← p21::3ql2‐←3qter). A comparison of the clinical and cytogenetical findings with similar cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient.
Development of eight pubertal males with 47,XXY karyotype
Authors: Salbenblatt James A. , Bender Bruce G. , Puck Mary H. , Robinson Arthur , Webber M. Lynn
Published: July 2010

The increasing frequency with which the diagnosis of the 47,XXY karyotype is made requires more knowledge of the prognosis of this condition. We present four 47, XXY boys identified at birth and followed since then (Group I), and four 47, XXY boys diagnosed because of physical and/or emotional problems (Group II). Physical, psychological, language, and hormone data are presented. The physical and intellectual profiles for the two groups are similar. This is in contrast to the very poor school and emotional adjustment of the Group II individuals. These boys were definitely more difficult and problematic for their parents when compared to their siblings and to Group I who were un‐selected. This further emphasizes that the expression of this karyotype is variable and individuals with behavioral disorders may represent a maladaptive subgroup rather than the entire population of 47,XXY males. Recommendations are given for intervention with attention to learning and language problems, hormone status, and emotional state.
Mannosidosis: two brothers with different degrees of disease severity
Authors: Mitchell Mark L. , Erickson Robert P. , Schmid Douglas , Hieber Virginia , Poznanski Andrew K. , Hicks Samuel P.
Published: July 2010

Two siblings with different degrees of mental retardation, skeletal dysplasia, coarse facies, delayed speech, motor incoordination, recurrent respiratory infections, and immunological abnormalities, were found to have deficient alpha‐mannosidase activity. Cultured skin fibroblasts in one sib were markedly deficient in alpha‐mannosidase while all other lysosomal enzymes tested were within the normal range. The more severely affected sib came to autopsy and was found to have “washed‐out” appearing cortical neurons and marked histiocytosis effacing lymph node architecture and partially replacing the bone marrow. The post‐mortem brain and liver samples demonstrated a deficiency in alpha‐mannosidase relative to the elevations of other lysosomal enzymes. Although the patterns of abnormalities in the two cases closely match those of descriptions of “type II” and “type I” mannosidosis respectively, the variation should be due to genetic modifiers or environmental effects since the brothers must have shared similar alpha‐mannosidase mutations. Immunologic abnormalities present in the more severely affected sib suggest that the differential survival seen in mannosidosis types I and II may be due to differences in their immune systems.
Recurrent unilateral hand malformations in siblings
Authors: Hecht Jacqueline T. , Scott Charles I.
Published: July 2010

A unique, familial, unilateral hand malformation is described. The rarity, recurrence and parental consanguinity are strongly suggestive of autosomal recessive inheritance in this family.
Lecithin‐cholesterol‐acyltransferase deficiency: autosomal recessive transmission in a large kindred*
Authors: Utermann G. , Menzel H. J. , Dieker P. , Langer K. H. , Fiorelli G.
Published: July 2010

Thirty‐four members of a single Sardinian kindred with lecithin‐cholesterol‐acyltransferase deficiency have been studied. The kindred spans four generations and the parents of the two affected siblings are blood relatives. Segregation of the acyltransferase deficiency gene in the family clearly demonstrated an autosomal recessive mode of inheritance. Thirteen family members, including all obligate heterozygotes, had roughly half‐normal acyltransferase activities (mean ± S.D. = 0.39 ± 0.06 mU/ml) when compared to 17 intrafamilial controls and spouses (mean ± S.D. = 0.72 ± 0.09 mU/ml) and 40 blood donors from Marburg/Lahn (mean ± S.D. = 0.76 ±0.1 mU/ml). Characterization of the heterozygotes did not reveal abnormalities in their plasma lipoproteins. LCAT deficiency and the β‐thalassaemia trait coexisting in this kindred segregated independently.
The atrioventricular conduction time ‐ a heritable trait?: III Twin studies
Authors: Møller Pål , Heiberg Arvid , Berg Kåre
Published: July 2010

Our observation of clustering of short P‐R intervals in one sibship prompted the examination of possible genetic control of the P‐R interval in healthy adults. Results presented from family and twin studies support the notion that the length of the P‐R interval is genetically controlled and that, in some kindreds, major genes may be involved.
The inheritance of sinking‐pre‐beta lipo‐protein and its relation to the Lp(a) antigen*
Authors: Hewitt D. , Milner J. , Owen A. R. G. , Breckenridge W. C. , Maguire G. F. , Jones G. J. L. , Little J. A.
Published: July 2010

We have investigated the genetics of plasma sinking‐pre‐beta lipoprotein (spβ) as determined by the method of Breckenridge and Maguire, using several approaches: (i) a population study, (ii) a twin study and (iii) the use of family data. In addition, by the use of split samples, the spβ level as determined by us was correlated with Lp(a) typing carried out in Oslo by Dr. Kåre Berg. Although the spβ level is a continuous character, the results clearly showed it to be to a considerable extent under the control of the major autosomal gene pair constituted by the alleles Lpa and Lp, which mainly control the production of the Lp(a) antigen, Lpa being dominant. In our data the boundary between the LpLp and Lpa Lp genotypes appeared to fall between the spβ 2 and 3 mg% levels, while that between Lpa Lp and Lpa Lpa was in the 15 mg% region. These boundaries, which were inferred from both typing and population statistics, received good confirmation from the family data. It appears that some 88% of the variation in spp level is directly ascribed to segregation of Lpa and Lp. On the basis of the twin study and other data, we conclude that the residual observed variation in spβ is almost entirely ascribed to analytical error of determination and polygenic effects, the influence of environment being negligible. The heritability is close to 100%.
Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma
Authors: Ejima Yosuke , Sasaki Masao S. , Kaneko Akihiro , Tanooka Hiroshi , Hara Yutaka , Hida Tetsuo , Kinoshita Yoshihiro
Published: July 2010

Chromosome examination of a female patient with 13/X translocation associated with retinoblastoma was carried out using peripheral blood lymphocytes and cultured skin fibroblasts. The constitutional karyotype was 46,X,t(l 3;X) (q12;p22). Q‐banding analysis showed that the translocated chromosomes were of paternal origin. Studies on DNA replication pattern with Giemsa banding using the bromodeoxyuridine substitution technique revealed that the derivative X chromosome was late replicating, and the translocated chromosome 13 was affected by the spreading of lyonization. Such a functional monosomy of 13q14 may also be involved in retinal blasts, and be related to the development of retinoblastoma.
Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): a report of a new case and a survey of those in the literature
Authors: Sewell A. C. , Gehler J. , Mittermaier G. , Meyer E.
Published: July 2010

A new case of mucopolysaccharidosis type VII (β‐glucuronidase deficiency) is described which presented with relatively mild clinical symptoms including disproportionate dwarfism, sternal protrusion, slight hepatomegaly and a small hernia. Facial features were not coarse and no neurological abnormalities were present. Urinary analysis revealed an increased excretion of chondroitin 4– and 6– sulphates. β‐glucuronidase activity was virtually absent in serum and cultured fibroblasts. The results, together with a clinical follow‐up of a previous case, are compared with the few cases described in the literature.
Quantitative identification of banded human chromosomes
Authors: Rum Rum , Woodward A. , Randell C. , Koschel K. , Hodgson G.S.
Published: July 2010

A method of measuring the banding patterns of G‐banded human chromosomes is described. On the basis of the measurements, band profiles of normal human chromosomes were assembled, and normal chromosomes were tested against the mean profile to produce quantitated estimates of the similarities between individual chromosomes and the composite profiles. The tests produced greater than 90% agreement between allocation by eye and allocation by comparison with the profile. A statistical determination of similarity was produced, which could be used to recognize abnormal chromosomes.
Prenatal diagnosis of Cockayne syndrome using assay of colony‐forming ability in ultraviolet light irradiated cells
Authors: Sugita Takahiro , Ikenaga Mituo , Suehara Noriyuki , Kozuka Takehito , Furuyama Junichi , Yabuuchi Hyakuji
Published: July 2010

The analysis of colony‐forming ability after ultraviolet light exposure is described with amniotic fluid cells from a pregnancy at risk for Cockayne syndrome. The amniotic fluid cells were considerably more sensitive to ultraviolet light than normal amniotic fluid cells and skin fibroblasts from normal donors. It took about 5 weeks from amniocentesis to identify the affected fetus by this colony assay. The diagnosis was confirmed in fibroblast cultures from both skin and lung of the aborted fetus.
Ornithine transcarbamylase deficiency: long‐term survival
Authors: Michels Virginia V. , Potts Elaine , Walser Mackenzie , Beaudet Arthur L.
Published: July 2010

A 4–1 /12‐year‐old male with complete ornithine transcarbamylase deficiency was treated with a very low protein diet supplemented with essential amino acids and keto acid analogues of essential amino acids. To our knowledge, he is the longest surviving male with complete ornithine transcarbamylase deficiency.
Group‐specific component (Gc) subtypes and schizophrenia
Authors: Papiha S. S. , Roberts D. F. , McLeish L.
Published: July 2010

Two hundred and fifteen schizophrenic patients (108 males and 107 females) in northeast England have been investigated for Gc types and subtypes and compared with the frequencies in first‐degree relatives and controls. Böök et al. (1978) described Gc2 allele association with schizophrenia. No such association was found with the Gc2 allele in the present study although there is a tendency towards an increased frequency in females. In subtype allele frequencies the female patients showed a significant reduction of GcIS allele. The results suggest a difference in susceptibility associated with the Gc locus in patients of different sexes.
Genetic heterogeneity of diabetes and HLA
Authors: Barbosa Jose , Bach Fritz H. , Rich Stephen S.
Published: July 2010

Histocompatibility (HLA) antigens and genotypes B, D and DR were studied in a large sample of Caucasian insulin dependent diabetic (IDD) probands. The associations between IDD and B8, B15, Dw3, Dw4, DR3, and DR4 were measured by relative risks (RR) and delta values (δ). Both the homozygotes (B8/8: RR 10, B 15/15: RR 7, DR3/3: RR32, DR4/4: RR34) and the heterozygotes (B8/15: RR 11, DR3/4: RR 46, Dw3/4: RR 22) for the high‐risk antigens showed highly significant elevation of the relative risks, yet there were no statistically significant differences between the homo‐ and the heterozygotes. The δ measurements supported the RR results. RR and δ were found significantly decreased for B7, Dw2, and DR2. There were no relationships observed between age at diagnosis or family history and HLA. Although we were unable to demonstrate a statistically significant difference between the RR for the high‐risk antigens heterozygote vs. the high‐risk antigen homozygotes, our study like many others shows that the RR is higher for the heterozygotes. Thus our data are compatible with genetic heterogeneity of IDD.
Clinical and cytogenetic aspects of X‐chromosome deletions
Authors: Goldman B. , Polani P. E. , Daker M. G. , Aangel R. R.
Published: July 2010

Karyotype/phenotype correlations in six non‐mosaic patients with dysgenetic ovaries and partial deletions of the X‐chromosome (three patients with short arm, and three with long arm deletions) are presented and the pertinent literature is analysed. It would appear that functioning ovarian tissue is present more often in patients with a short arm deletion than in those with a deleted long arm. This may represent a difference in the strength of two sets of controlling factors, but it can also be related to break point position. This in turn may be misinterpreted due to the difficulty in distinguishing between terminal and interstitial deletions in the long arm. Stature may be a heterochromatic effect, but if specific genetic factors influencing stature exist, then they would appear to be situated mostly on the short arm of the X‐chromosome, although some ‘statural determinants’ occur also on the long arm and could be located rather close to the centromere. Deletions of the short arm of the X‐chromosome were almost always associated with some features of the Turner phenotype, and could possibly be related to a gene dosage effect.
Human hair follicles, a convenient tissue for genetic studies on carcinogen metabolism
Authors: Hukkelhoven M. W. A. C. , Vermorken A. J. M. , Vromans E. , Bloemendal H.
Published: July 2010

Basal levels of benzo(a)pyrene metabolism were measured in hair follicles of seven monozygotic twins, eight dizygotic twins and ten pairs of unrelated individuals. Organic soluble metabolites were separated by thin‐layer chromatography, visualised by autoradiography and quantified by scanning of the films. Activity was expressed as pmol 7,8‐ and 9,10‐dihydrodiol metabolites of benzo(a)pyrene per μg DNA per hour. Intra‐twin differences in benzo(a)pyrene metabolism for monozygotic twins were smaller than for dizygotic twins and intra‐pair differences for dizygotic twins were smaller than for pairs of unrelated individuals. The results clearly suggest that individual differences in benzo(a)pyrene metabolism in hair follicles are partly genetically determined. Thus, hair follicles may be used for investigations on the suggested relations between genetic predisposition to carcinogen‐induced cancer and individual differences in carcinogen metabolism. The relevance of these findings to research into the induction of neoplasms by carcinogens in epithelial tissues is discussed.
Pseudodeficiency of α‐galactosidase A
Authors: Bach Gideon , Rosenmann Eliezer , Karni Aharon , Cohen Tirza
Published: July 2010

Apparent deficiency of α‐galactosidase A was observed in a 51‐year‐old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that found in Fabry disease patients, could be demonstrated using both synthetic and natural substrates. This pseudo‐deficiency was transmitted in his family by classical X‐linked inheritance. His wife showed enzyme activity in the normal range, two daughters were heterozygotes for this mutation as demonstrated by hair root assay, and three sons showed normal α‐galactosidase activity. Kinetic studies in cultured skin fibroblasts indicated a five‐fold increase in the apparent Km and a greater heat stability of the residual α‐galactosidase activity when compared to controls. These data indicate that the residual enzyme activity in this mutation behaves similarly to that observed in Fabry disease patients but does not cause any clinical abnormalities.
Present nosology of the Cenani‐Lenz type of syndactyly
Authors: Pfeiffer R. A. , Meisel‐Stosiek M.
Published: July 2010

Synostoses of the carpals and metacarpals with oligodactyly were noted in a man whose brother was similarly affected. Since the proband's two children are normal, autosomal recessive transmission is probable. Although abnormalities of the feet, and particularly radioulnar synostosis, are lacking, this malformation is comparable to the Cenani‐Lenz type of syndactyly. Interfamilial variations of published cases suggest subdivision of a new nosologic group.
Family distances can reveal hidden consanguinity
Authors: Kate Leo P. ten , Rutgers‐Janssen Roelien
Published: July 2010

Family distances, defined as summary measures of all possible geographic distances between birthplaces of paternal ancestors and birthplaces of maternal ancestors in a given generation, were compared in patients with autosomal recessive disorders and patients with Down's syndrome. In general, family distances in Down's syndrome patients were twice the family distances in patients with autosomal recessive disorders, even after the exclusion of rare disorders or cases with overt consanguinity. In modern, Western European societies grandparental and great‐grandparental family distances may be more appropriate measures of the effect of population structure than parental distance or parental consanguinity.
Sphingomyelinase in cultured skin fibroblasts from normal and Niemann‐Pick type C patients
Authors: Poulos A. , Hudson N. , Ranieri E.
Published: July 2010

The spingomyelinase activities of extracts of normal cultured skin fibroblasts were compared with those obtained from Niemann‐Pick disease Type A and B patients, and from a number of patients with a provisional clinical diagnosis of Niemann‐Pick disease Type C. Even though fibroblasts from Type A and B patients were shown to be clearly deficient (<5% residual activity) the activity in Type C fibroblasts varied from approximately 50% of the lowest control value to normal activity.

Isoelectric focussing of extracts of normal cultured skin fibroblasts on polyacrylamide gels revealed the presence of sphingomyelinase heterogeneity. However, no characteristic change in the behaviour of the enzyme in corresponding extracts from Niemann‐Pick Type C cells was observed, suggesting that, if the defect in this condition is expressed in fibroblasts, it does not manifest biochemically in the appearance or disappearance of a specific sphingomyelinase isoenzyme.

Our data suggest that the heterogeneity observed in fibroblast extracts may simply reflect an interaction of the enzyme either with itself or with other hydrophobic components present in the cellular extracts.
Chromosome preparations of human whole blood lymphocytes: an improved technique
Authors: Ibraimov A. I.
Published: July 2010

A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%‐5% aquaeous solution of glacial acetic acid is added to the cell suspension prior to fixation in order to completely destroy and wash out red cells, as well as for selective fixation of lymphocytes.
Greig cephalopolysyndactyly: report of 13 affected individuals in three families
Authors: Baraitser M. , Winter R. M. , Brett E. M.
Published: July 2010

Three families with Greig cephalopolysyndactyly are reported, the relationship with pre‐axial Polydactyly type IV and the acrocallosal syndrome is discussed.
An unusual otological manifestation of Usher's syndrome in four siblings
Authors: Karjalainen S. , Teräsvtrta M. , KÄRJÄ J. , Kääriäinen H.
Published: July 2010

A family in which four out of ten siblings affected by Usher's syndrome, with progressive hearing loss, is described. Two of the siblings had hearing loss while of school age, but two others first exhibited otological symptoms in their thirties. One of the siblings had retinitis pigmentosa, diagnosed before the hearing impairment became evident. The family seems to exhibit type III Usher's syndrome with unusual manifestations.
Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression
Authors: Reynolds James F. , Shires Mary Ann , Wyandt Herman E. , Kelly Thaddeus E.
Published: July 2010

We report two brothers and two second cousins with 4p trisomy secondary to a familial translocation t(4;7) (pl2;q36). A comparison of their physical features demonstrates the variability of clinical manifestations associated with this chromosome abnormality. While previous authors have emphasized the distinctiveness of the 4p trisomy syndrome, the variability seen in the affected relatives in this family suggests that trisomy 4p is one of the less distinctive chromosomal syndromes. Further comparison of our patients with the previously reported cases of 4p trisomy and with two cases whose chromosomal breakpoints were similar confirms this variability. Studies of phenotype/karyotype correlations in affected relatives provides the best opportunity to determine the phenotypic consequences of a specific (that is, identical) translocation. Studies of unrelated persons are complicated by the effects of different breakpoints and of possible partial deletions.
Cystic hygroma and hydrops fetalis in a fetus with trisomy 13
Authors: Greenberg Frank , Carpenter Robert J. , Ledbetter David H.
Published: July 2010

We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34‐year‐old woman. Although fetal cystic hygroma is usually associated with a 45, X karyotype, this and other previous reports suggest that it may be seen in association with other chromosomal and nonchromosomal abnormalities as well. Thus, a diagnosis of Turner Syndrome should not be made on the basis of a cystic hygroma observed by prenatal sonography alone.
Fragile X syndrome in mildly mentally retarded children in a Northern Swedish county. A prevalence study
Authors: Blomquist H. K:son , Gustavson K‐H. , Holmgren G. , Nordenson I. , Pålsson‐Stråe U.
Published: July 2010

In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50–70) born 1959–1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X‐chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined series of severe and mild mental retardation, the incidence of the fragile X syndrome was calculated to be 1:3000 in the county of Vasterbotten. Next to trisomy 21 the fragile X syndrome was the most common single identified cause of MMR in boys. A cytogenetic investigation using special cultural conditions and banding techniques should be performed in cases of mental retardation of unclear etiology and in possible female carriers.
Genetic regulation of melatonin excretion in urine
Authors: Wetterberg Lennart , Iselius Lennart , Lindsten Jan
Published: July 2010

The melatonin excretion in urine was determined in 107 individuals from 23 nuclear families. Complex segregation analysis showed that the melatonin production might be regulated by an additive major gene.
Male to male transmission of the G syndrome
Authors: Farndon Peter A. , Donnai Dian
Published: July 2010

A father and son with hypertelorism and hypospadias are reported. The father has further, relatively mild, signs of the G syndrome, but his son has severe manifestations, including stridor, feeding difficulties and cardiac anomalies. This supports autosomal dominant inheritance.
Silver‐Russell syndrome with absence of digits and syndactylism of the fingers
Authors: Keppen Laura Davis , Rennert Owen M.
Published: July 2010

A patient with Silver‐Russell Syndrome with previously undescribed absence of two fingers plus syndactyly of the opposite hand is reported.
Spongy degeneration of the brain in Israel: A retrospective study
Authors: Ungar Moshe , Goodman R. M.
Published: July 2010

Spongy degeneration of the brain is a rare autosomal recessive disorder found predominantly in Ashkenazi Jews. In a recent review, 48 families were found to be affected with this disease. This report deals with a survey of this condition in Israel between the years 1965–1980. Eleven families with 17 affected children were ascertained. All records on these patients were reviewed and each family was visited. All the families were Jewish, comprising 7 Ashkenazi, 1 Sephardi, 2 Oriental and 1 mixed Ashkenazi‐Oriental family. Parental consanguinity was noted only in the Sephardi and Oriental families, suggesting the rareness of the gene in these populations, versus its relatively more frequent occurrence among Ashkenazi Jews. Various clinical and histopathological findings observed in our study are compared to those reported in the literature.
Homology between coding and noncoding sequences within the human class I HLA antigen gene
Authors: Ohno Susumu
Published: July 2010

In our previous paper, we identified 32 recurring base oligomers (1 decamer, 4 octamers, 9 heptamers and 18 hexamers) within the coding sequence for the mouse class I major histocompatibility (MHC) antigen H‐2Kb. The compilation of these recurring base oligomers led to the conclusion that the entire ancestral coding sequence for class I MHC antigens evolved from tandem repeats of the one 45 base‐long primordial building block base sequence.

As with most other mammalian genes, the gene for each class I MHC antigen is an admixture of coding and noncoding segments interspersed with each other. Thus, the status of noncoding segments should be clarified in relation to the concept of the primordial building block. The published 4,122 base‐long sequence of human pHLA 12.4 germline gene afforded me an opportunity for clarification. Since the number of recurring base oligomers residing within the entire 4,000 +base‐long sequence proved unmanageably numerous, the two portions 1,200 bases in the total length were singled out. Within these portions containing five noncoding and four coding segments, noncoding and coding segments shared 1 nonomer, 3 octamers, 6 heptamers and 5 hexamers; all the above‐noted base oligomers were derived from different parts of the same 45 base‐long primordial building block. It was thus concluded that not only the coding segments, but the entire ancestral gene for class I MHC antigens evolved from tandem repeats of the 45‐base‐long primordial building block. This new concept of primordial building block was discussed in relation to the mechanism of evolution by gene duplication.