bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial non‐Hodgkin lymphoma: Histologic diversity and relation to other cancers
Authors: Greene Mark H. , Miller Robert W. , Herrmann J. 
Published: June 2005

AbstractFamilial non‐Hodgkin lymphoma (NHL) cases were classified according to the histologic criteria (modified) of Rappaport, to determine the extent of morphologic similarities of the tumors. In four families affected members had different tumor histologies that may be observed in an individual patient as the lymphoma progresses. In two families, the affected relatives had tumors of seemingly discordant histology. These tumors may nonetheless be etiologically related as indicated by the pattern of laboratory abnormalities, especially immunologic, in affected as well as unaffected members. The 20 cases had a reversal of the sex ratio (M/F) usually seen in NHL: 0.5 instead of 1.3. Other tumors observed in these families included primary hepatocellular carcinoma, pulmonary adenocarcinoma, Hodgkin disease, and acute lymphocytic leukemia ‐ all of which have been associated with inborn or acquired immunodeficiency states.
Alkaptonuria in the Trenčín District of Czechoslovakia
Authors: Sršeň Štefan , Cisárik František , Pásztor Ladislav , Harmečko Ladislav , Opitz John M. 
Published: June 2005

AbstractFor several years the Clinical Genetics Research Laboratory at Martin, Czechoslovakia, has been studying alkaptonuria (AU) in the northern part of the District of Trenčín in Slovakia. These affected individuals are part of a group of 103 alkaptonurics originated mostly in the mountainous parts of Slovakia. We report results of pedigree analyses; population and affected‐family biochemical urine screening; estimation of inbreeding coefficient, of exogamy rate and of average marital distance and of calculation of the frequency of the AU allele, and of homozygotes and jeterozygotes in this portion of the Trenčín District. Twelve homozygotes were found, but seven originated from a single hamlet in which a founder effect – genetic drift and inbreeding – are thought to account for the high prevalance of AU.
Spreading of inactivation in an (X;14) translocation
Authors: Allderdice Penelope W. , Miller Orlando J. , Miller Dorothy A. , Klinger Harold P. , Opitz John M. 
Published: June 2005

AbstractIn the KOP translocation, t(X;14) (q13; q32), virtually the entire long arm of the X has been translocated to the end of the long arm of chromosome 14. Meiotic secondary nondisjunction in a female balanced carrier of the translocation has led to a son with two der(14) or 14‐X chromosomes. The normal X chromosome is late replicating in the mother. One of the two 14‐X Chromosomes is late replicating in the son, with heavy terminal labeling of all but the centromeric end of the chromosome. This suggests that genetic inactivation has spread from the Xq segment of the translocation chromosome to at least two thirds of the segment derived from chromosome 14, and that the remaining proximal segment of chromosome 14 is possibly still genetically active. These findings provide an explanation for the phenotype: Klinefelter syndrome plus a few mild malformations that are sometimes seen in this syndrome but are also seen in duplication of the proximal portion of chromosome 14. Although the proband has a duplication of virtually an entire chromosome 14, 14(pter→q32), the phenotypic effect of the autosomal duplication has been mostly nullified by the spread of inactivation.
Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies
Authors: Fraser F. Clarke , Ling Daniel , Clogg Donald , Nogrady Bernadette , Gorlin Robert J. 
Published: June 2005

AbstractA pedigree of branchio‐oto‐renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child. The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families.Branchio‐oto‐renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence. Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed. Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity. A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas. The risk of severe renal malformation is probably fairly low. Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear. At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation.
Mental retardation and osteosclerosis
Authors: Hunter Alasdair G. W. , Macpherson Roderick I. , Opitz John M. 
Published: June 2005

AbstractWe report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features.
The X‐linked syndrome of macroorchidism and mental retardation: Further observations
Authors: Bowen Peter , Biederman Brian , Swallow Kathleen A. , Opitz John M. 
Published: June 2005

AbstractWe report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X‐linked, or possibly autosomal dominant male‐limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood‐group typing were uninformative for the purpose of linkage analysis.
Autosomal dominant inheritance of scalp defects with ectrodactyly
Authors: Bonafede R. P. , Beighton P. 
Published: June 2005

AbstractNine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.
The G syndrome: A case report
Authors: Greenberg Cheryl Rockman , Schraufnagel Dean , Optiz John M. 
Published: June 2005

AbstractA case of the G syndrome is reported in a baby boy who had an unusual facies (prominent forehead, telecanthus, posteriorly rotated ears, and anteverted nostrils), laryngeal cleft, hypospadias, cryptorchidism, and psychomotor development delay, possibly secondary to birth asphyxia and numerous medical and surgical complications. The mother had a similar facies.
Finite sample properties of maximum likelihood estimates of the recombination fraction in double backcross matings in man
Authors: Bolling David R. , Murphy Edmond A. , Elston Robert C. 
Published: June 2005

AbstractThe properties of the maximum likelihood estimator (MLE) of the recombination fraction, Θ, based on various numbers and sizes of sibships derived from double backcross matings are exactly explored where the coupling phases are presumed equally likely (which for two‐generation data is generally the case). The results indicate that for large values of Θ the expectations are severely biased. The bias, variance, and measures of normality of the MLE behave erratically for small sizes and numbers of sibships.The implications for chromosome mapping are discussed.
Reproductive risk of t(13q14q) carriers: Case report and review
Authors: Harris David J. , Hankins Lana , Begleiter Michael L. , Stene Jon , Hoehn Holger 
Published: June 2005

AbstractWe report a four‐generation kindred with a balanced 13q 14q Robertsonian translocation. The proband had the Down syndrome, due to trisomy of chromosome 21; he also carried the balanced D‐group translocation. A segregation analysis of 86 sibships was performed to examine the risk of t(13q 14q) carrier parents having trisomy 21, 47, XXY, or trisomy 13 children by which a number of families were ascertained. None of these disorders recurred after birth of the propositi. The frequency of abortions was not different from that of the general population. The conditional segregation ratio for balanced translocation carriers among the phenotypically normal offspring of carrier parents was 0.55 ± 0.04.
Duplication 6q syndrome
Authors: Tipton Robert E. , Berns Jeffrey S. , Johnson Walter E. , Wilroy Robert S. , Summitt Robert L. , Lubs Herbert A. 
Published: June 2005

AbstractDuplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21) mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of hromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, “carp” mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.
Gerodermia osteodysplastica hereditaria: Report of three affected brothers and literature review
Authors: Lisker Rubén , Hernández Andrés , Martínez‐Lavin Manuel , Mutchinick Osvaldo , Armas Cristina , Reyes Pedro , Robles‐Gil Javier , Optiz John M. 
Published: June 2005

AbstractGerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocelusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoporosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips.Three other families with a total of 14 affected individuals have been reported. Inter‐ and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper: lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others.Although inheritance was considered to be X‐linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive manner.
Cytogenetic findings in Roberts‐SC phocomelia syndrome(s)
Authors: Tomkins Darrell , Hunter Alasdair , Roberts Maureen 
Published: June 2005

AbstractRoberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. A distinction has been made between the two syndromes on the basis of relative severity of these manifestations. Where chromosome studies have been carried out, most have been reported as normal. However, there have been two reports of consistent centromere abnormalities; one in a patient with SC phocomelia (pseudothalidomide syndrome), the other in a patient with Roberts syndrome. Four patients with similar phenotypic manifestations have recently been shown in our laboratory to have the same centromere puffing and splitting. These four patients had other clinical manifestations in common, including bilateral corneal opacities, microcephaly, absence of radii, limited extension at knees and elbows, apparent enlargement of the phallus, and survival beyond the neonatal period.
A family study of congenital inguinal hernia
Authors: Czeizel A. , Gárdonyi Judit 
Published: June 2005

AbstractIn fathers and mothers of 707 index patients with operated indirect congenital inguinal hernia (CIH) born in Budapest during the years 1962–1966 the frequency of CIH was two and five to six times higher, respectively, than in the general population. The rate of affected sibs was higher than that of parents but was greatly dependent on the sex of the index patient. Heritability estimates of CIH vary significantly in parents (0.35 ± 0.12) and in sibs (0.78 ± 0.14). In twins the heritability is 0.77. These data agree with the multifactorial threshold model involving dominance variance.
Dyggve‐Melchior‐Clausen syndrome: Genetic studies and report of affected sibs
Authors: Toledo S. P. A. , Saldanha P. H. , Lamego C. , Mourão P. A. S. , Dietrich C. P. , Mattar E. 
Published: June 2005

AbstractWe report a brother and sister with Dyggve‐Melchior‐Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome – that with MR, and that without MR (Smith‐McCort dysplasia) are rare autosomal recessives. Spinal cord injury and early death is a danger in both.
Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 → 7p21
Authors: Miller Marvin , Kaufman Genevieve , Reed George , Bilenker Robert , Schinzel Albert 
Published: June 2005

AbstractWe report an uncle and niece with duplication and deletion, respectively, of segment 7p15 → 7p21 originating from a balanced, intrachromosomal insertion in their mothers. The proposita had prenatal and postnatal growth deficiency, retarded psychomotor development, microcephaly, wide cranial sutures, ocular hypertelorism, small palpebral fissures, apparently low‐set and malformed ears, cleft palate, congenital heart defect, hypoplasia of the distal phalanx of first fingers, rocker‐bottom feet, persistent cloaca, and imperforate anus. She died at three months. Her maternal uncle has duplication of this segment and is alive at 32 years. He has severe mental deficiency, but normal growth; communicating hydrocephalus was diagnosed at three months.
Osteopathia striata associated with familial dermopathy and white forelock: Evidence for postnatal development of osteopathia striata
Authors: Whyte Michael P. , Murphy William A. , Hermann Jürgen 
Published: June 2005

AbstractOsteopathia striata and a macular, hyperpigmented dermopathy were found in a Caucasian woman and her two daughters. Sequential radiographs in one daughter showed that the bone lesions were not present during infancy but developed during early childhood. The skin lesions were not those most often associated with osteopathia striata, but appeared to be a unique dermatosis, which also included a hypopigmented forelock. A son had neither osseous nor ectodermal lesions. These abnormalities appear to represent a new syndrome, which is inherited with X‐linked or autosomal dominant transmission.
Acro‐renal‐mandibular syndrome
Authors: Halal Fahed , Desgranges Marie‐Françoise , Leduc Bernard , Thêorét Gilles , Bettez Paul 
Published: June 2005

AbstractWe report two female sibs, with severe split‐hand/split‐foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro‐renal “syndrome” in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.
The recurrence risk for neural tube defects in the United States: A collaborative study
Authors: Cowchock S. , Ainbender E. , Prescott G. , Crandall B. , Lau L. , Heller R. , Muir W. A. , Kloza E. , Feigelson M. , Mennuti M. , Cederquist L. , Karp Laurence E. 
Published: June 2005

AbstractTo determine the recurrence risk for patients with one prior pregnancy affected with neural tube defects (NTD), the authors have pooled date from eight testing centers. In 831 pregnancies studies because one sib was affected with an NTD, the recurrence rate was 3.0%, with 95% confidence limits of 2.0–4.3%, and 99% confidence limits of 1.8–4.8%. The recurrent lesion, whether spina bifida or anencephaly, tended to be concordant with the first to a significant degree. Only 12.2% or recurrent NTD were different from the first, with 95% confidence limits of 4.1–26.2%, and 99% confidence limits of 1.7–30.9%. Both an accurate recurrence risk and the information that a recurrent NTD lesion tends to be concordant with that in the first asffected child are useful in the genetic counseling of patients in the United States and in the selecton of appropriate prenatal diagnostic studies.
The G syndrome‐additional observations
Authors: Arya Sunita , Viseskul Chirane , Gilbert Enid F. 
Published: June 2005

AbstractWe are reporting the second lethal case of G syndrome occurring in a female. The developmental defects in this patient included posteriorly angulated auricles, bifid tip of tongue with a long frenulum, hypoplasia of the epiglottis and larynx, rocker bottom feet, and hypertrophied labia majora and clitoris. Additional anomalies not previously reported in the G syndrome were circumvallate placenta, and incompletely perforated hymen.
The meckel syndrome in the Hutterites
Authors: Schurig Verena , Bowen Peter , Harley Frances , Schiff David , Opitz John M. 
Published: June 2005

AbstractAt least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.
Anatomical analysis of the developmental effects of aneuploidy in man: The down syndrome
Authors: Bersu Edward T. , Opitz John M. 
Published: June 2005

AbstractDetailed anatomical dissections of five Down syndrome (DS) bodies revealed a unique and consistent “internal phenotype” composed of: 1) variations in muscles, 2) peripheral artery variations, and 3) the presence of dilatations and nerve rootlets associated with the spinal accessory and first cervical nerves. Most of these variations may occur occasionally in the normal population, but their more frequent occurrence in the five DS cases provides further support for Shapiro's (1975) hypothesis that one effect of the extra autosome is to increase the instability of normal developmental processes.Three of the variations: 1) the presence of an extra facial muscle, 2) multiple vertebral arteries, and 3) the presence of dilatations and nerve rootlets associated with the spinal accessory and 1st cervical nerves, may be the result of a failure of regression of otherwise transient embryonic structures.A variation of the midfacial muscles of expression, explained as an arrest in development, has not been described previously and, to date, remains a manifestation unique to the trisomy 21 phenotype.Aside from their use in developmental speculation, the sum of these variations may be useful for corroborating diagnoses of suspected post‐mortem cases of the DS without cytogenetic confirmation.
Renal hypodysplasia and unilateral ovarian agenesis in the Penta‐X syndrome
Authors: Toussi Tahmouresse , Halal Fahed , Lesage Robert , Delorme Fernand , Bergeron André , Opitz John M. 
Published: June 2005

AbstractWe report the case of a 3‐year‐old penta‐X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fertile.
Gardner syndrome and periampullary malignancy
Authors: Pauli Richard M. , Pauli Mary E. , Hall Judith G. , Opitz John M. 
Published: June 2005

AbstractIn a family with colonic polyposis and the typical associated findings of Gardner syndrome (osteomas and soft‐tissue tumors), two and possibly four of the affected members developed periampullary malignancy. A review indicates that individuals with Gardner syndrome may have a 100‐ to 200‐fold increased risk of developing periampullary carcinoma when compared to the general population. While certain families and certain individuals (those with other duodenal involvement, males and those with all of the characteristics of Gardner syndrome expressed) may be most susceptible, all patients with Gardner syndrome should be periodically endoscopically evaluated for the presence of upper gastrointestinal tract disease.
Linkage studies in spinocerebellar ataxia (SCA)
Authors: Morton N. E. , Lalouel J‐M. , Jackson J. F. , Currier R. D. , Yee S. 
Published: June 2005

AbstractData are now available on 9 pedigrees in detail and 4 pedigrees as lod scores only. Linkage to HLA is significant (Ž = 5.53 at recombination rates of 0.223 in males and 0.327 in females). Tight linkage is excluded. Nine pedigrees which appear to be typical olivopontocerebellar atrophy (OPCA I) have recombination rates of 0.150 in males and 0.300 in females. The remaining 4 pedigrees are clinically atypical or include discrepant data and give no evidence for linkage. The symbol SCA1 is proposed for a locus on chromosome 6 (loosely linked to HLA), at which at least one allele produces OPCA I (Menzel type). It is not yet clear whether other clinical types are determined by alleles at different loci, although this is suggested by several pedigrees, including a Danish pedigree of OPCA with dementia. Linkage evidence will be decisive in delineating the ataxias.
A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment
Authors: Christian Joe C. , Dexter R. N. , Palmer C. G. , Muller J. 
Published: June 2005

AbstractWe report a family in which a mentally retarded, proportionately dwarfed girl had a child from a presumably incestuous mating that had the Ellis van‐Creveld syndrome, presumed autosomal recessive hydrocephalus (Dandy‐Walker type), and homozygosity for an extremely long 9qh+ chromosomal marker.The mentally retarded mother had normal birth weight, unusual facial appearance, and virtual absence of secondary sexual hair; she developed severe hypoglycemia during pregnancy. Her parents were first cousins, and she may have a previously unreported autosomal recessive syndrome.
Duplication 11p11.3 → 14.1 to meiotic crossing‐over
Authors: Strobel Richard J. , Riccardi Vincent M. , Ledbetter David H. , Hittner Helen M. , Francke Uta 
Published: June 2005

AbstractAn infant with macular dysfunction, cleft lip and palate, and developmental delay was shown to have an inverted duplication of 11p11.3→p14.1 on the basis of meiotic recombination subsequent to an intrachromosomal “shift” in his mother. A half‐sister had previously been shown [3] to have the reciprocal recombinant with resultant deletion of 11p11.3→11p14.1.