bluuebunny/crossref_metadata_2025_split huggingface dataset:
Experiences with risk estimates for carriers of chromosomal reciprocal translocations
Authors: Midro Alina T. , Stengel‐Rutkowski Sabine , Stene Jon 
Published: July 2010

Midro AT, Stengel‐Rutkowski S, Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet 1992:41: 113–122.The risk estimates for individual carriers of ten different familial reciprocal translocations detected among 500 couples with reproductive failures are presented. These were established by application of the empirical data analysed by Stengel‐Rutkowski et al. (1988) and the guidelines given in Stene & Stengel‐Rutkowski (1988). Different risks were estimated for unbalanced offspring at birth or at second trimester prenatal diagnosis for abortions, or stillbirths/early deaths. These risk estimates varied considerably from translocation to translocation. Carriers of five translocations had risks for offspring with single‐segment imbalances. The birth risk figures ranged from 0.1% to 13.8%. Carriers of five other translocations had risks for double‐segment imbalances with birth risks ranging from 0% to 3.2%. The estimated risk figures were independent of the method of ascertainment. Among the parents of the index cases we found nine maternal carriers and only one paternal carrier. This presentation illustrates the need for individual risk counselling of each carrier with reciprocal translocation regarding further family planning.
The trichorhinophalangeal syndrome with repeated dislocation of the patella
Authors: Puliyel Jacob M. , Puliyel Matthew M. , Varughese Sara 
Published: July 2010

Puliyel JM, Puliyel MM, Varughese S. The trichorhinophalangeal syndrome with repeated dislocation of the patella. Clin Genet 1992: 41: 139–142.The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for Ehlers‐Danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. Literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndrome.
A new chromosome 9 variant: an extra band within the 9qh region
Authors: Hoo Joe J. 
Published: July 2010

Hoo J J. A new chromosome 9 variant: an extra band within the 9qh region. Clin Genet 1992: 41: 157–158.An extra G‐positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G‐staining.
Monosomy 6q: report on four new cases
Authors: Valtat C. , Galliano D. , Mettey R. , Toutain A. , Moraine C. 
Published: July 2010

Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Monosomy 6q: report on four new cases. Clin Genet 1992:41: 159–166.We report on four patients with partial monosomy of the long arm of chromosome 6: two children presenting with an interstitial deletion del(6)(ql4ql6), the two others presenting with a terminal deletion del(6)(q25qter). These patients are compared with previous reports in the literature: 16 cases of terminal deletion and 17 cases of interstitial deletion. The deletions most often occur de novo. Mental retardation is always described. Dysmorphic facial features range between minor and major. There may be associated visceral abnormalities. After comparing the size and the localisation of the deletions with clinical data, we are now able to suggest a clinical localisation on chromosome 6.
Phenotypic discriminants in the Waardenburg syndrome
Authors: Winsbip Ingrid , Brighton Peter 
Published: July 2010

Winship I, Beighton P. Phenotypic discriminants in the Waardenburg syndrome. Clin Genet 1992: 41: 181–188.The gene for Waardenburg syndrome (WS) has been assigned to the locus 2q37 and further molecular investigations of affected families are now urgently required to explore the question of possible genetic heterogeneity. Firm positive or negative diagnosis in family members is crucial for studies of this type, but great variation in phenotypic expression sometimes makes this a difficult matter. Ethnic variation in craniofacial anatomical relationships further complicates the issue. We have attempted to establish diagnostic criteria for WS on the basis of an analysis of the phenotypes in 68 affected children who have been examined in special schools for the deaf in Southern Africa during the past 18 years. We then used these criteria for diagnostic evaluation of all available persons in seven multigeneration WS families in the Cape, as a preliminary to molecular investigations. With very few exceptions this approach permitted firm positive or negative diagnosis in these individuals.
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl‐coenzyme‐A thiolase
Authors: Walner Moacir , Sansavsrlno Maria Tareza , Glugliani Roberto , Sweetman Laurence , Yamaguchl Seljl , Fukao Toshiyukl , Shlh Vivian E. 
Published: July 2010

Wajner M, Sanseverino MT, Giugliani R, Sweetman L, Yamaguchi S, Fukao T, Shih VE. Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme‐A thiolase. Clin Genet 1992: 41: 202–205.A case report of 3‐ketothiolase deficiency due to a defect of mitochondrial acetoacetyl‐CoA thiolase protein in a Brazilian boy and its biochemical investigation is presented. The child had moderate generalized hypotonia, EEG alterations and crises of metabolic acidosis following infections. Hypotonia and EEG abnormalities disappeared with a low protein diet, and physical and mental development are normal. Urinary organic acid excretion was typical of 3‐ketothiolase deficiency, showing consistently high levels of 2‐methyl‐3‐hydroxybutyric acid and tiglylglycine. Activation of acetoacetyl‐CoA thiolase activity by potassium (K) ion in cultured fibroblasts was not observed, demonstrating the lack of activity of mitochondrial acetoacetyl‐CoA thiolase. In addition, the signal for the mitochondrial acetoacetyl‐CoA thiolase protein was undetectable in the immunoblot analysis. In the pulse‐chase experiments, the signal for mitochondrial acetoacetyl‐CoA thiolase was detected after a 1‐h pulse but not after a 24‐h chase. These results indicate that the deficiency was caused by an unstable mitochondrial acetoacetyl‐CoA thiolase protein.
Transmission of breast cancer ‐ a controversy resolved
Authors: Iselius Lenaart , Littler Mary , Morton Newton 
Published: July 2010

Iselius L, Littler M, Morton N. Transmission of breast cancer ‐ a controversy resolved. Clin Genet 1992:41: 211–217.The Danish breast cancer data collected by Jacobsen (1946) have been reanalysed using morbid risks which incorporate mortality due to breast cancer. A dominant gene is favoured for familial breast cancer, supporting the conclusions of Williams & Anderson (1984) and later authors. Neglect of specific mortality does not greatly alter estimates of gene frequency and displacement, but the evidence for a major gene is inflated. No evidence for heterogeneity was found. Earlier claims of non‐Mendelian transmission are in error since we have discovered that transmission probabilities are not correctly implemented in the computer program POINTER. Cases with bilateral breast cancer and males with breast cancer all belonged to families favouring a major gene. Of the cancer sites frequently reported to be associated with familial breast cancer, only ovarian cancer is significant in this material.
Neu‐Laxova syndrome: report of a case from Turkey
Authors: Kuseyri F. , Bilge I. , Bilgiç L. , Apak M. Y. 
Published: July 2010

Kuseyri F, Bilge I, Bilgiç L, Apak MY. Neu‐Laxova syndrome: report of a case from Turkey.Clin Genet 1993: 43: 267–269. © Munksgaard, 1993We describe a case of Neu‐Laxova syndrome in a newborn female who was born at full‐term to consanguineous Turkish parents. The pathological and radiological features are described.
Prenatal diagnosis of congenital sialidosis
Authors: Sasagasako N. , Miyahara S. , Saito N. , Shinnoh N. , Kobayashi T. , Goto I. 
Published: July 2010

Sasagasako N, Miyahara S, Saito N, Shinnoh N, Kobayashi T, Goto I. Prenatal diagnosis of congenital sialidosis.Clin Genet 1993: 44: 8–11. © Munksgaard, 1993A case of prenatally diagnosed congenital sialidosis is described in a 21‐week‐old male fetus, which was the fifth product of non‐consanguineous parents. The proband, the second product, was diagnosed as having sialidosis by the enzyme assay in peripheral leukocytes after birth. At the 17th week of pregnancy, the fetus at risk was proven to have isolated sialidase deficiency after analyzing a sample of the cultured amniotic fluid cells. There were many cytoplasmic vacuoles and increased amounts of sialyloligosaccharides in the tissue of the aborted fetus, while the amount and the pattern of gangliosides in the central nervous system were normal.
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity
Authors: Bistritzer Tzvy , Fried Kalman , Lahat Eli , Dvir Michaela , Goldberg Michael 
Published: July 2010

Bistritzer T, Fried K, Lahat E, Dvir M, Goldberg M. Congenital contractural arachnodactyly in two double second cousins: possible homozygosity.Clin Genet 1993: 44: 15–19. © Munksgaard, 1993A Bedouin family with two girls affected by severe congenital contractural arachnodactyly (CCA) is described. The girls were double second cousins. One of the girls also had ambiguous genitalia, an anomaly not generally associated with this disorder. The two children were both the product of first‐cousin Bedouin parents from the same family. It is possible that both sets of parents were heterozygous for CCA; thus the infants may have been homozygous for CCA, which is usually an autosomal dominant condition. No instance of homozygous CCA has previously been reported. This family suggests genetic heterogeneity in CCA and that, in some rare families, the mode of inheritance may be autosomal recessive.
Parental origin of the supernumerary chromosome in trisomy 18
Authors: Ya‐gang Xie , Robinson Wendy P. , Spiegel Roland , Binkert Franz , Ruefenacht Urszula , Schinzel Albert A. 
Published: July 2010

Ya‐gang X, Robinson WP, Spiegel R, Binkert F, Ruefenacht U, Schinzel AA. Parental origin of the supernumerary chromosome in trisomy 18. Clin Genet 1993: 44: 57–61. Munksgaard, 1993The parental origin of an extra chromosome in Edwards syndrome has been investigated in 23 families by the combination of the VNTR probe pERT25, two microsatellite polymorphisms for D18S34 and D18S40, and several two‐allele polymorphisms. Of the 23 cases, 22 were informative, with 17 (77%) being maternal and 5 (23%) paternal in origin. These results support the previous investigations, suggesting that trisomy 18 is predominantly of maternal origin, although a higher rate of paternally derived cases was observed than previously reported. A significant increase in maternal age was found to be associated with meiotic nondisjunction. Parental age was increased in both the maternally and paternally derived cases, but the size of the latter class was small and did not reach statistical significance.
Infertility in carriers of two bisatellited marker chromosomes
Authors: Gentile M. , Susca F. , Resta N. , Stella A. , Cascone A. , Guanti G. 
Published: July 2010

Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G. Infertility in carriers of two bisatellited marker chromosomes.Clin Genet 1993: 44: 71–75. © Munksgaard, 1993Two unrelated sterile patients, a male and a female, with karyotypes characterized by the presence of two supernumerary bisatellited marker chromosomes, were studied with the aid of fluorescence in situ hybridization (FISH). Using alphoid centromeric specific probes, the markers were identified as an idic (15) (pter‐q 11) and a mar (14). In both cases a single accessory bisatellited marker was present in the karyotype of one of the parents. A possible correlation between the excess of constitutive heterochromatin and meiotic disturbances in the two patients is discussed.
Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot
Authors: Meguid Nagawa Abdel 
Published: July 2010

Meguid NA. Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot.Clin Genet 1993: 44: 95–97. © Munksgaard, 1993A 6‐year‐old Egyptian boy with frontonasal dysplasia (FND) and lipoma of the corpus callosum associated with tetralogy of Fallot is reported. The main features were severe hypertelorism, downward slanted palpebral fissures, bilateral epicanthal folds, a grossly deformed nose with notched alae nasi, absent nasal tip and long philtrum. A computerized tomography (CT) scan of the brain showed cerebral atrophy and lipoma of the corpus callosum. While marked neurological symptoms have been reported in cases with lipoma of the corpus callosum in the absence of FND, the present case and previous reports showed minor neurological alterations when lipoma of the corpus callosum was associated with FND. From the findings in this case and previous reports, it is possible to conclude that lipoma of the corpus callosum associated with FND is always located in the anterior part of the corpus callosum. The etiology of FND remains uncertain. While multifactorial inheritance has been proposed, parental consanguinity with young parental age in the present case cannot exclude autosomal recessive inheritance.
Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation
Authors: Figuera L. E. , Garcia‐Cruz D. , Ramirez‐Dueñas M. L. , Rivera‐Rables V. , Cantù J. M. 
Published: July 2010

Figuera LE, García‐Cruz D, Ramírez‐Dueñas ML, Rivera‐Robles V, Cantù JM. Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation.Clin Genet 1993: 44: 98–101. © Munksgaard, 1993Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris. Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro‐brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia and the neonatal respiratory distress are the most typical characteristics of this mental retardation syndrome.
DNA polymorphisms of the apolipoprotein B gene are associated with obesity and serum lipids in healthy Indians in Singapore
Authors: Saha N. , Tay J. S. H. , Heng G. K. , Humphries S. E. 
Published: July 2010

Saha N, Tay JSH, Heng CK, Humphries SE. DNA polymorphisms of the apolipoprotein B gene are associated with obesity and serum lipids in healthy Indians in Singapore.Clin Genet 1993: 44: 113–120. © Munksgaard, 1993Three DNA polymorphisms (Ins/Del, XbaI and EcoRI) of the apolipoprotein B gene and their influence on body‐mass index, serum lipids and apolipoprotein levels were studied in 181 healthy Indians of both sexes (121 males and 60 females), aged between 17 and 71 years. The frequencies of X+ (XbaI) and Del (Ins/Del) of the signal peptide region in Indians were found to be significantly lower (0.17 and 0.11, respectively) compared to the frequencies in Caucasians (0.50 and 0.32, respectively) (P < 0.025). The frequency of E—(EcoRI) was similar to that in Caucasians (0.10 vs 0.15). A highly significant linkage disequilibrium was observed between the XbaI site and Ins/Del polymorphism of the apo B gene in this sample (X2= 31.9, P<0.001). The simultaneous presence of Del and X+ allele was significantly associated with higher body mass index (X2= 11.43, P<0.005), serum total cholesterol (X2= 5.11; P<0.025) and triglyceride (X2= 6.42; P< 0.025) levels. Mean values of adjusted BMI and serum triglyceride levels were found to be 29.0\pm1.92 vs 23.7\pm 0.67 (P<0.025) and 278.0\pm 60.78 vs 140.4\pm 15.43 mg/d1 (P<0.05), respectively, in subjects with Del and X+ compared to others. The multiple regression tests showed that 3.3 and 5.8% of the total variability of BMI is explained by Ins/Del and XbaI polymorphism, respectively, in this sample (P= 0.06 and 0.02), while 3.8% of serum triglyceride levels was explained by Ins/Del polymorphism of the apo B gene (P= 0.04). Further, the serum HDL cholesterol level was significantly associated with XbaI polymorphism, with X+ having significantly lower HDL cholesterol, and it explained about 5% of the total variability (P= 0.02).
Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)
Authors: Baumeister F. A. M. , Egger J. , Schildhauer M. T. , Stengel‐Rutkowski S. 
Published: July 2010

Baumeister FAM, Egger J, Schildhauer MT, Stengel‐Rutkowski S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22). Clin Genet 1993: 44: 121–128. © Munksgaard, 1993Congenital hypertrichosis universalis is a rare autosomal dominant disease. We report the further development of a Greek girl, now aged 3 years, the first case associated with a balanced structural chromosomal aberration. She was described as a neonate by Sigalas et al. (1990). Her persistent generalized hypertrichosis is most excessive on the face, ears and shoulders. Her fine silky hair is of the vellus, not the lanugo type. The syndrome features are characterized, referring to nine further published case reports. It is distinguished from other types of congenital hypertrichoses, which have been described in the literature under different synonyms. To avoid confusion in the terminology, we propose to name this type of hypertrichosis Ambras syndrome in reference to the first documented family with congenital hypertrichosis universalis in the 16th century.
Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome
Authors: Butler Merlin G. , Pratesi Riccardo , Watson Michael S. , Breg W. Roy , Singh Dharmdeo N. 
Published: July 2010

Butler MG, Pratesi R, Watson MS, Breg WR, Singh DN. Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome.Clin Genet 1993: 44: 129–138. © Munksgaard, 1993Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of their retardation. The fra(X) syndrome males consistently showed larger dimensions for all anthropometric variables, with significant differences for height, sitting height, arm span, hand length, middle finger length, hand breadth, foot length, foot breadth, and testicular volume. A craniofacial pattern did emerge between the two groups of mentally retarded males, but with overlap of several variables. Significant differences were noted for head circumference, head breadth, lower face height, bizygomatic diameter, inner canthal distance, ear length and ear width, with the fra(X) syndrome males having larger head dimensions (head circumference, head breadth, head length, face height and lower face height), but smaller measurements for minimal frontal diameter, bizygomatic diameter, bigonial diameter, and inner canthal distance. Several significant correlations were found with the variables for both mentally retarded males with and without the fra(X) syndrome. In a combined anthropometric and craniofacial profile of 19 variables comparing 26 white fra(X) syndrome males (13 with high expression (>30%) and 13 with low expression (<30%), but matched for age), a relatively flat profile was observed with no significant differences for any of the variables. Generally, fra(X) syndrome males with increased fragile X chromosome expression have larger amplifications of the CGG trinucleotide repeat of the FMR‐1 gene. No physical differences were detectable in our study between fra(X) males with high expression and apparently larger amplifications of the CGG trinucleotide repeats compared with those patients with low expression. Our research illustrates the use of anthropometry in identifying differences between mentally retarded males with or without the fra(X) syndrome and offers a comprehensive approach for screening males for the fra(X) syndrome and selecting those individuals for cytogenetic and/or molecular genetic testing.
Prenatal detection of an inverted X chromosome in a male
Authors: Brothman Arthur R. , Newlin Anna , Phillips Susan E. , Kinzie Gretchen Q. , Leichtman Lawrence G. 
Published: July 2010

Brothman AR, Newlin A, Phillips SE, Kinzie GQ, Leichtman LG. Prenatal detection of an inverted X chromosome in a male. Clin Genet 1993: 44: 139–141. © Munksgaard, 1993An unusual case of an X chromosome with a pericentric inversion (p11.3q21.3) was detected prenatally in a male fetus. This inversion has not been previously characterized. Although the inverted chromosome was transmitted through the mother, no living males on the maternal side were detected with the aberrant chromosome. Replication studies were performed on cultures of maternal peripheral blood lymphocytes, and it was determined that the inverted X chromosome was early replicating in approximately half of the cells. Following genetic counseling, the pregnancy was continued and a healthy male infant was delivered at term. Cytogenetic analysis of peripheral blood performed in the newborn period confirmed the prenatal findings. The child is developing normally at 3 years of age.
A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3
Authors: Jeffery Steve , Saggar‐Malik Anand K. , Morgan Steve , MacGregor Graham A. 
Published: July 2010

Jeffery S, Saggar‐Malik AK, Morgan S, MacGregor GA. A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3.Clin Genet 1993: 44: 173–176. © Munksgaard, 1993A family of Sicilian origin with autosomal dominant polycystic kidney disease (APKD) has been shown to be unlinked to chromosome 16 markers. LOD scores for the polymorphic markers 3'HVR and SM7 flanking the PKD 1 locus, were ‐1.4 and ‐2.33 respectively, and θmax was 0.5 for each marker. The clinical phenotype of this family is consistent with that of the other non‐linked families with APKD reported in the literature, all outside the United Kingdom, which have a milder progression than those linked to 16p13.3. Assuming that a clinic population represents the most severe forms of a disease and non PKD‐1 is a less aggressive phenotype, the degree of genetic heterogeneity for APKD in the population may well be much greater than at present suggested.
The Myhre syndrome: report of two cases
Authors: Garcia‐Cruz D. , Figuera L. E. , Feria‐Velazco A. , Sánchez‐Corona J. , Garcia‐Cruz M. O. , Ramirez‐Duenãs R. M. , Hernandez‐Córdova A. , Ruiz M. X. , Bitar‐Alatorre W. E. , Ramirez‐Dueñas M. L. , Cantú J. M. 
Published: July 2010

Garcia‐Cruz D, Figuera LE, Feria‐Velazco A, Sanchez‐Corona J, Garcia‐Cruz MO, Ramirez‐Dueñas RM, Hernandez‐Cordova A, Ruiz MX, Bitar‐Alatorre WE, Ramirez‐Dueñas ML, Cantu JM. The Myhre syndrome: report of two cases.Clin Genet 1993: 44: 203–207. © Munksgaard, 1993Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.