bluuebunny/crossref_metadata_2025_split huggingface dataset:
Holoprosencephaly in a Down syndrome child
Authors: Pi Soo‐Young , Fineman Robert M. , Wing S. Douglas , Grunnet Margaret , Chan Gary , Optiz John M. 
Published: June 2005

AbstractGross malformation of the central nervous system (CNS) is rare in Down syndrome (DS). To our knowledge we report for the first time the association of trisomy 21 and holoprosencephaly. Because of the low probability of chance concurrence due to unrelated causes, a causal relationship between these two conditions in the patient must be presumed. The anatomic similarity of the holoprosencephalic defect in this infant to that seen in others with autosomal dominant, recessive, sporadic, or syndromal forms of holoprosencephaly, supports the hypothesis that: (a) this CNS defect is a causally nonspecific developmental field complex (DFC); (b) the increased incidence of such DFCs in the DS represents the result of a nonspecific decrease of developmental homeostasis [Waddington, 1975] due to autosomal aneuploidy.
Preliminary communication: Hairy tip of nose—a new trait in males
Authors: Goswami H. K. 
Published: June 2005

AbstractHairy nose tip (HNT) is reported here to be another male sex‐limited trait in man. Out of 1,220 females examined, none demonstrated the trait, whereas the male population frequency is estimated to be 7.35%. The age of onset is 16 years, with a greater prevalence in the age group 46–55, and declining frequency after age 55. Pedigree data do not allow discrimination among several genetic hypotheses.
C‐band polymorphism: Comparison between trisomy 21 cases and mentally retarded controls
Authors: Funderburk S. J. , Klisak I. , Sparkes R. S. , Westlake Joan , Hoehn Holder 
Published: June 2005

AbstractC‐banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C‐band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C‐band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.
Bimodal month of birth distribution in cystic fibrosis
Authors: Brackenridge C. J. , Miller James R. 
Published: June 2005

AbstractThe month of birth of 923 patients in England and Wales dying with cystic fibrosis as an underlying cause was found to be distributed independently of sex and year of birth during 1954–1976. When adjusted for the monthly variations in births in the national population, birth frequencies were bimodally distributed. This confirmed results obtained previously in the Netherlands and Australia. Peak births occurred in late February and August, regardless of whether a single six‐monthly cycle or two annual cycles were assumed. It was not possible to choose the better of these models, each yielding similar parametric estimates.
A boy with congenital malformations and chromosome breakage
Authors: Daneshbod‐Skibba Ghodsi , Therman Eeva , Sahidi Nasrollah T. 
Published: June 2005

AbstractA patient with increased chromosome breakage and multiple congenital malformations is described. The lack of any apparent quantitative or qualitative disturbance in emopoiesis and adequate number of myeloid and erythroid progenitor cells and the absence of certain clinical features such as webbed neck and absence of dark pigmentation in the patient did not support the diagnosis of the Fanconi pancytopenia syndrome. The cytogenetic studies revealed increased chromosome breakage at G1 phase, a finding which is also at variance with that observed in patients with the Fanconi pancytopenia syndrome.
The ring nature of a tiny supernumerary chromosome fragment
Authors: Hoo J. J. , Drummond Margaret , Parslow M. I. , Chambers Diana , Kaya Celia I. 
Published: June 2005

AbstractWe report a 5½‐year‐old girl with a tiny supernumerary chromosome fragment found in mosaic. The ring nature of the tiny fragment was demonstrated by the detection of the characteristic products of a ring chromosome. The clinical consequence of a ring chromosome and the impact of finding a supernumerary chromosome fragment, especially in the practice of prenatal chromosome diagnosis, are discussed.
Two conceptions in a 45,X woman
Authors: Kohn G. , Yarkoni S. , Cohen M. M. , Opitz John M. 
Published: June 2005

AbstractWe present a 31‐year‐old woman with a 45,X chromosome constitution who had had two miscarriages. This report brings to 11 the number of presumably non‐mosaic Ullrich‐Turner syndrome patients who have achieved pregnancy. A review of the literature indicates an increased incidence of chromosome abnormalities and a high rate of fetal death in offspring of such patients. However, in light of the fertility in these patients, genetic counseling should be reevaluated and perhaps amniocentesis recommended in successful pregnancies.
Congenital lethal metaphyseal chondrodysplasia: A newly recognized complex autosomal recessive disorder
Authors: Sedaghatian M. R. , Opitz John M. 
Published: June 2005

AbstractThis is a report of two brothers, born within a year of each other, with a similar skeletal disorder of severe congenital metaphyseal involvement, mild rhizomelic shortness of upper limbs, and mild platyspondyly. Both died at three days of cardio‐respiratory insufficiency, but only one had ante‐mortem lab tests which showed low calcium, high phosphorus, and high alkaline phosphatase levels attributed to a renal defect. On autopsy this same infant was found to have pulmonary, renal and adrenal hemorrhage, and subendocardial myocarditis and myocardial necrosis. The pathogenetic relationship between these manifestations is presently unclear; however, since parents are normal and recently had an affected baby girl, it is presumed that this disorder is an autosomal recessive trait.
Amniotic 17‐α hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21‐α hydroxylase deficiency — congenital adrenal hyperplasia
Authors: Rosenmann Ada , Schumert Zewijah , Theodor Rachel , Cohen Tirza , Brautbar Chaim 
Published: June 2005

AbstractWe have investigated a family with one child affected with congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency. Prenatal determination of 17‐α hydroxyprogesterone (17OHP) in amniotic fluid (AF) and HLA typing of amniotic fibroblasts from a pregnancy at risk showed that the fetus was not affected.A healthy cousin with HLA haplotypes identical to those of the proposita (only one being identical by descent) had a normal plasma level of 17OHP.The prenatal diagnosis of a fetus affected with 21‐hydroxylase deficiency CAH may be established by the determination of 17OHP in AF. This is a relatively quick procedure that can be confirmed by the HLA genotype, and is mandatory in families with a parent homozygous for an HLA haplotype and in certain recombinant haplotypes in the fetus.
Frequency of new mutants among boys with Duchenne muscular dystrophy
Authors: Bucher K. , Ionasescu V. , Hanson J. , Optiz John M. 
Published: June 2005

AbstractHaldane's rule states that one‐third of the cases of an X‐linked recessive lethal should represent new mutations. This rule is derived under the assumptions that there is equilibrium between mutation and selection, that mutation rates in ova and sperm are equal, and that heterozygous and homozygous normal women have the same fitness. To test this rule for Duchenne muscular dystrophy (DMD), we have examined the mothers of 55 boys with DMD (16 familial and 39 isolated cases) and classified them as carriers or noncarriers on the basis of measures of ribosomal protein synthesis (RPS). Of the 55 mothers, only nine (16.4%) are classified as noncarriers, a figure significantly different from the expected one‐third. When the analysis is limited to the 39 mothers of isolated cases, 23.1% (9/39) are classified as noncarriers, still significantly different than expected under Haldane's rule. Violation of any of the assumptions under which Haldane's rule is derived could lead to deviations from the expected one‐third new mutants. We find the most likely explanation to be a higher male than female mutation rate. This is supported also by the finding that maternal grandfathers in whom a mutation occurred had higher mean age at birth of the carrier daughter (33.7 ± 1.6) than did the general population or intrapedigree controls (29.5 ± 1.3).
The Dubowitz syndrome: Further observations
Authors: Orrison William W. , Schnitzler Eugene R. , Chun Raymond W. M. , Optiz John M. 
Published: June 2005

AbstractAn autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the Dubowitz syndrome. Five addition additional cases of the Dubowitz syndrome are reported, including 2 with documented vascular abnormalities.
Short rib‐polydactyly syndrome, Majewski type
Authors: Chen Harold , Yang S. Samuel , Gonzalez Enrique , Fowler Marjorie , Al Saadi A. , Optiz John M. 
Published: June 2005

AbstractA term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib‐polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre‐ and post‐axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition.
GENFILES: A computerized medical genetics information network. I. An overview
Authors: Loughman William D. , Mitchell Joyce A. , Mosher Douglas C. , Epstein Charles J. 
Published: June 2005

AbstractGENFILES is a comprehensive computer information network to serve research, service, and administrative needs in medical genetics. Four major databases contain detailed information generated by the cytogenetics laboratory, the prenatal diagnosis program, the diagnostic and genetic counseling clinics, and the human cell culture facility. Unique aspects are the use of RAMIS, a commercial database management system, and of microprocessor computers as “intelligent” terminals with significant data‐handling capabilities. All databases are on‐line in a directly accessed large timesharing computer. The system, which has been designed, controlled, and maintained by regular genetics staff, is an easy to use, moderate‐cost tool well suited for use as a regional clinical genetics information system.
Neural tube malformations: Complex segregation analysis and recurrence risk
Authors: Pietrzyk Jacek J. , Optiz John M. 
Published: June 2005

AbstractA sample of 223 families with at least one child with anencephaly and/or spina bifida was ascertained in Southern Poland, where the incidence of neural tube malformations is 0.92/1,000. The recurrence risk in proband's sibs was 3.4%. The calculated heritability (h2) was 76%, implying a substantial contribution of genetic factors to the cause of neural tube defects. Complex segregation analysis was applied in an attempt to discriminate between the hypothesis of a single locus and that of quasi‐continuity under multifactorial inheritance. The results excluded the hypothesis of dominant inheritance with full penetrance. The hypothesis of the two‐allele model (at a single locus) fit the data with the same degree of exactness; however, for all hypotheses the estimated penetrance was low, and the phenocopy frequency was high. Less accurate conformity was observed for the multifactorial hypothesis. In view of very low penetrance and high frequency of phenocopies in single locus hypotheses and the finding that empirical data gave better support to the multifactorial model, the differences in χ2 values should not be viewed as sufficient to discriminate between single locus and multifactorial models. The recurrence risks, assessed in the complex segregation analysis, showed an increase together with the growing number (r) of affected children. For constant r the recurrence risks decreased in successive pregnancies. Although discrimination between the mendelian and multifactorial inheritance models was incomplete, the risk values obtained can be employed in genetic counseling.
Duplication 8p syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12
Authors: MorenoFuenmayor H. , Meilinger K. L. , Rucknagel D. L. , Mohrenweiser H. L. , Chu E. H. Y. , Optiz John M. 
Published: June 2005

AbstractWe report a family in which six individuals were carriers of a translocation between chromosomes 8 and 12. The balanced carriers had a chromosome constitution: 46,XX or 46,XY,t(8;12)(021;p13). Six individuals in five generations were mentally retarded. Three of them were examined; their chromosome constitution was 46,XX or 46,XY,der(12),t(8;12)(p21;p13); thus they had a duplication of 8pter→8p21 and possible deficiency of 12pter→12p13. The activities of the enzymes that are coded by genes on 8p (glutathione reductase, GSR, E.C. 1.6.4.2.) and 12p (triosephosphate isomerase, TPI, E.C. 5.3.1.1.; lactate dehydrogenase‐B, LDH‐B, E.C. 1.1.1.27.; and glyceraldehyde‐3‐phosphate dehydrogenase, G3PD, E.C. 1.2.1.12.) were normal in these individuals. These findings helped in interpreting the position of the break points in the respective chromosomes. The phenotypic findings in our patients are discussed.Segregation analysis indicates no significant variation from a 25% recurrence risk for each of the possible genotypes in the offspring of balanced carriers.
Prenatal genetic diagnosis and elective abortion in women over 35: Utilization and relative impact on the birth prevalence of Down syndrome in Washington State
Authors: Luthy David A. , Emanuel Irvin , Hoehn Holger , Hall Judith G. , Powers Ellen K. , Optiz John M. 
Published: June 2005

AbstractWe have examined the relative contributions of a population‐based antenatal detection program and unrestricted elective abortion used by women 35 years old and over in Washington State and King County for 1976–1977 to the declining birth prevalence of Down syndrome (DS). The amniocentesis/live birth (LB) ratio for women 35 years old and ove was 20.5/100 LBs for King County and 11.7/100 LBs for Washington State in 1977. For the state in 1976, abortion ratios/1,000 LBs were 571 for women 35 to 39 years old and 1,096 for women 40 years old and over.Based on the total Washington State data, elective abortion has a greater impact on averting DS births than does the antenatal detection program. The impact of elective abortion appears to be related to its disproportionate use by women 35 years old and over compared to their contribution to the population of of LBs.
Significance of phenotypic and chromosomal abnormalities in X‐linked mental retardation (Martin‐Bell or Renpenning syndrome)
Authors: Jennings M. , Hall J. G. , Hoehn H. , Herrmann Jürgen 
Published: June 2005

AbstractWith the exception of macro‐orchidism, three families with X‐linked mental retardation showed diagnostic concordance of clinical features among the affected males. Since macro‐orchidism was a variable feature among the otherwise identically affected males in one family, we question the existence of a separate entity of X‐linked mental retardation characterized only by testicular enlargement. The X chromosome marker of Lubs was expressed, under the culture conditions of Sutherland, in lymphocytes of the affected males of two families, one with and the other without megalotestes. Two affected members of the third family, with megalotestes, did not show the marker. Telomeric structural changes similar to the mar(X) (qter) formation were found on certain autosomes, notably, chromosome 6 in some of the affected males, potential and obligate carrier females, and in both related and unrelated normal males. These autosomal markers appear to represent a nonspecific response to either in vivo or in vitro folate deficiency. Caution against premature introduction of this test for prenatal diagnosis, in the face of current ignorance regarding diagnostic specificity, is urged.
X‐linked mental retardation with macro‐orchidism and marker‐X chromosomes
Authors: Martin Renée H. , Lin C. C. , Mathies Barbara J. , Lowry R. Brian , Optiz John M. 
Published: June 2005

AbstractThe family of 2 men with X‐linked mental retardation was investigated for the presence of the marker‐X chromosome and macro‐orchidism. Lymphocyte cultures were set up in media F‐10 and 199. Chromosomes were G‐band‐stained and slides coded for blind analysis. Marker‐X chromosomes and autosomal gaps were seen only in cultures prepared with medium 199. Autosomal gaps were seen in all family members and controls. The marker‐X chromosome was present in affected male (3% and 15.5%) and female family members (0.5%–6.5%) but not in controls or a normal male family member. Bilateral macro‐orchidism was present in 1 affected male and unilateral macro‐orchidism in the other. Both had normal penile measurements. The replication pattern of the marker‐X chromosome was studied in 1 woman by BrdU labelling. BrdU decreases the frequency of marker‐X expression. As the marker‐X chromosome was the late‐replicating X in 9/20 cells, it appears that there is no preferential inactivation of the marker‐X in this woman.
X‐linked mental retardation: A study of 7 families
Authors: Jacobs Patricia A. , Glover Thomas W. , Mayer Martha , Fox Patricia , Gerrard John W. , Dunn Henry G. , Herbst Diana S. , Optiz John M. 
Published: June 2005

AbstractSeven families with X‐linked mental retardation (MR) have been studied clinically and cytogenetically. All affected males in six of the families were found to have a fragile site on Xq in a number of their peripheral lymphocytes. The fragile site was not seen in any of the affected males in the seventh family. The affected males in the six families with the fragile X had a syndrome characterized by a variable degree of MR, macro‐orchidism, a characteristic repetitive, jocular speech, normal body proportions, and large jaws and ears.The fragile X chromosome could only be detected in a proportion of female carriers and its frequency in females was found to be correlated with their mental status and to be inversely correlated with their age.
Fragile sites in human chromosomes II: Demonstration of the fragile site Xq27 in carriers of X‐linked mental retardation
Authors: Howard‐Peebles Patricia N. , Optiz John M. 
Published: June 2005

AbstractDemonstrating the Xq27 fragile site in men with X‐linked mental retardation and in obligate carriers is a continuing problem. I report two additional families with this disorder (Families F and G) and present cytogenetic data on females from four families (D–G). These data and those previously published suggest that there are two types of families in regard to fragile Xq expression in carrier females. One type shows no apparent phenotypic effect in the female and the demonstration of the fragile Xq becomes more difficult with increasing age, whereas the second type is associated with some phenotypic effect (ie, reduction in mental ability), and the fragile Xq can be demonstrated regardless of age.
Double trisomy 48,XXX,+18 in a newborn
Authors: Rosenfeld Warren , Verma Ram S. , Jhaveri Ramesh C. , Salazar Delfor , Dosik Harvey 
Published: June 2005

AbstractWe report the 6th case of double trisomy X and 18, ie, 48,XXX,+18. The infant lacked overlapping fingers, simian creases, and structural heart disease and is alive at 275 days. Two X chromosomes were late replicating. Anomalies of the hands and kidneys involved only the right side in the present case; review of the five previous cases of 48,XXX,+18 also showed that anomalies of kidneys, hands, and ears affected predominantly the right side in three patients.
Psychological aspects of genetic counseling: Analysis of a transcript
Authors: Kessler Seymour , Antley Ray M. 
Published: June 2005

AbstractA transcript of a genetic counseling session is presented and discussed by 2 separate readers. The style of counseling emphasized content material at the expense of process. The counselor avoided or evaded affective issues and thus limited his ability to clarify the current attitudes and beliefs of the counselees as well as to identify their future needs. However, one emphathic intervention did have an important impact on changing the tone of the session. The issues of directiveness and neutrality were examined in light of the process of the session. The counselor appeared to be largely nondirective in his advice‐giving and ostensibly neutral in his educational approach. Nevertheless, his overall counseling strategy seemed to be aimed at persuading the counselees to agree to have the amniocentesis procedure. The need for more information on what actually occurs in the course of genetic counseling is underscored.
Minor manifestations in preaxial polydactyly type 1 and Poland complex
Authors: Halal Fahed , Opitz John M. 
Published: June 2005

AbstractWe report three unrelated patients: two (patients 1 and 3) with preaxial polydactyly type 1 (PPT1), and one (patient 2) with PPT1 and Poland complex, and previously undescribed minor manifestations in the parents. The mother of patient 1 has camptodactyly with mild ulnar deviation of the distal phalanx of left thumb. The mother of patient 2 has symmetrical minor changes of both hands: mild camptodactyly of digits 4 and 5; mild clinodactyly of right 5th digit; absent or hypoplastic DIP flexion creases of digits 2, 3, 4 and 5; and tight skin around the middle phalanx of the 4th fingers. The mother of patient 3 has mild camptodactyly of the proximal phalanx of the thumbs.
Duplication 3p syndrome: Report of a new case and review of the literature
Authors: Charrow Joel , Cohen Maimon M. , Meeker Diana , Opitz John M. 
Published: June 2005

AbstractA review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21→pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include low birth weight, short stature, microcephaly, characteristic “square” face with temporal indentations, hypertelorism and/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down‐turned corners of the mouth. Cleft lip/palate and eversion of the lips are common. The jaw is typically small and receding and the neck short. Congenital heart disease, gastrointestinal malformations, abnormalities on intravenous urography, and defective masculinization of the male infants are frequently observed. A predominance of whorls is present on the fingers. Nearly half of the cases died before 6 months. All affected children surviving beyond 1 year have been mentally retarded.