bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three‐generation dominant transmission of the Silver‐Russell syndrome
Authors: Duncan Peter A. , Hall Judith G. , Shapiro Lawrence R. , Vibert Betsy K. 
Published: June 2005

AbstractWe report on 7 patients with the Silver‐Russell syndrome (SRS) in two 3‐generation families. Three patients in each of the families had an undergrowth of the left side of the body when compared with the normal right side. The clinical courses were mild as compared to the severity sometimes described in sporadic cases.These patients and a review of 190 SRS cases from the literature showed that there were 23 families in which 38 patients had completely expressed SRS. In 17 of the families, multiple maternal relatives had complete or partial expressions of the SRS.Most SRS patients have been reported to occur sporadically; however, of the 197 propositi analyzed, 19% had more than one affected individual in a family and several different modes of inheritance could have been responsible. Two families (8.7%) had spontaneous dominant mutations (twins) and possible autosomal recessive transmission was present in 4 families (17.4%). Because no male‐to‐male transmission has yet been documented in the 21 families in the literature and the two families reported here, X‐linked dominant inheritance is a possibility in 17 families (74%).Thus, although sporadic occurrences and genetic heterogeneity appear to be involved in the SRS, dominant inheritance may be a major causal factor.
Nonimmunologic hydrops fetalis: An etiopathogenetic approach through the postmortem study of 59 patients
Authors: Villaespesa A. Ruiz , Mier M. P. Suarez , Ferrer P. Lopez , Baleriola I. Alvarez , Gonzalez J. I. Rodriguez 
Published: June 2005

AbstractAiming at increasing our understanding of the various causative factors of nonimmunologic hydrops fetalis (NIHF) and their pathogenetic mechanisms, we have reviewed 59 cases of this condition from a total number of 4,175 pediatric post‐mortem studies performed at the Department of Pathology of the Hospital La Paz from 1967 to 1987.We found eight cases (13.5%) without clinical, biochemical, or post‐mortem findings justifying the development of hydrops fetalis, seven cases (12%) associated with certain pathologic findings that by themselves do not explain the development of hydrops and, finally, 44 cases (74.5%) in whom pathological findings may explain the development of the condition. Notwithstanding the etiological diversity of this last group, in 31 of these cases (70%), some common pathogenetic features may be recognized, basically a failure of the right ventricle of the heart in the fetus or newborn, due to a primary heart condition, to intracardiac tumors, or to obstructive phenomena at the level of the right venous drainage.In our opinion, whenever NIHF is diagnosed or suspected, causes of right cardiovascular failure should be investigated, since about 50% of all cases seem to de due to this pathogenetic mechanism.
Mild form of Jeune syndrome in two sisters
Authors: Giorgi P. L. , Gabrielli O. , Bonifazi V. , Catassi C. , Coppa G. V. 
Published: June 2005

AbstractJeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life. However, some cases with milder clinical manifestations have been described; these cases show characteristic renal involvement of different severity. The authors report on two cases of the mild form of Jeune syndrome in sisters.
Mild phenotypic abnormalities in combined del 9p2 and dup 3p2
Authors: Game K. , Friedman J. M. , Kalousek D. K. 
Published: June 2005

AbstractClinically recognizable syndromes have been reported in association with both del 9p2 and dup 3p2. We report on a girl with combined del 9p2 and dup 3p2 with manifestations of both syndromes but who is less severely affected than one would expect.
Distal deletion of chromosome 1q in an adult
Authors: Halal Fahed , Vekemans Michel , Kaplan Paige , Zeesman Suzan 
Published: June 2005

AbstractAn adult patient with mongoloid appearance, profound retardation and autistic‐like behavior was found to have a deletion of the distal bands of chromosome 1q. To our knowledge, this is the oldest patient with distal deletion 1q.
A “new” skeletal dysplasia in two unrelated boys
Authors: Saul Robert A. , Wilson William G. 
Published: June 2005

AbstractWe report on 2 unrelated boys with similar physical and radiographic findings that may represent a “new” skeletal dysplasia. Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia with relatively prominent eyes, and brachydactyly with blunt fingers. Radiographic findings include mild irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges with increased distal width, coning and sclerosis of several epiphyses, and overtubulation of the long bones. Although these patients share some manifestations with the floating‐harbor syndrome (Robinson et al.: J Pediatr 113:703–706, 1988), their radiographic changes are distinctive and are not suggestive of a recognized skeletal dysplasia syndrome.
Apparent Smith–Lemli–Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons
Authors: Parnes Sharon , Hunter Alasdair G. W. , Jimenez Carmencita , Carpenter Blair F. , MacDonald Ian 
Published: June 2005

AbstractA diagnosis of Smith–Lemli–Opitz syndrome was made shortly after birth in a small‐fordates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2–3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith–Lemli–Opitz syndrome are indicated.
Ring chromosome 6: Clinical and cytogenetic behaviour
Authors: Paz‐y‐Miño César , Benítez Javier , Ayuso Carmen , Sánchez‐Cascos Andrés 
Published: June 2005

AbstractSeveral investigators have reported in vitro instability of ring chromosomes. We have evaluated the clinical and cytogenetic course over 8 years in a patient with ring chromosome 6 and found stability in this ring chromosome. The different cell lines remained constant, and the phenotype showed little variation. This syndrome seems to be related to the deletion in the ring rather than to its instability.
Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
Authors: Farag Talaat I. , Teebi Ahmad S. 
Published: June 2005

AbstractWe report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.
Detection of molecular rearrangements in Prader‐Willi syndrome patients by using genomic probes recognizing four loci within thePWCR
Authors: Gregory C. A. , Kirkilionis A. J. , Greenberg C. R. , Chudley A. E. , Hamerton J. L. 
Published: June 2005

AbstractThe Prader‐Willi chromosome region (PWCR) in Prader‐Willi Syndrome patients was analyzed by using genomic DNA probes mapping to 15q11.2–q12. The present report includes analysis of dosage by RFLP and densitometric studies, and analysis of restriction patterns. Twelve Prader‐Willi syndrome (PWS) patients were studied: 5 had deletions of 15q11–q13, one had an unbalanced translocation, and 6 were karyotypically nomal. four genomic DNA probes were used: pML34 (D15S9); pTD3–21 (D15S10); IR4‐3 (D15S11), a subclone of IR4; adn IR10‐1 (D15S12), a subclone of IR10 (Donlon et al.:Proc Natl Acad Sci USA83:4408–4412, 1986). The results presented demonstrate that molecular rearrangements have occurred in 10 of the 12 PWS patients investigated and that the specific rearrangements differ from patient to patient. Patients with apparently similar cytogenetic delections differ at the molecular level with deletions and/or duplications of various loci. The present study reports molecular alterations within thePWCRin PWS patinets reported as cytogenetically normal. However, the 6 karyotypically normal patients are a heterogeneous group with molecular rearrangements ranging from none detected to delections and/or duplications. These molecular studies suggest that a physical disruption of thePWCRcauses the PWS not only in those patients reported to have cytogenetic aberration but also in those identified as apparently karyotypically normal. The question remains as to whether the PWS patients in whom a molecular abnormality has not been detected have an autosomal recessive form of PWS, a molecular disruption which has not yet been detected, or another mechanism producing an apparently identical phenotype. The order of the 4 loci on chromosome 15 is hypothesized to be cen →D15S9→D15S12→D15S11→D15S10.
Dynamics of quantitative homeostasis: VIII. Processes that oscillate finitely many times
Authors: Murphy Edmond A. 
Published: June 2005

AbstractThere is no well‐established method of dealing with medical processes that oscillate only a finite number of times. A lagged homeo‐static model of higher power in certain circumstances follows such a pattern and critical values are here explored by numerical integration. Abrupt ending of the oscillation occurs with processes of higher powers. The model is illustrated by clonus, chosen because reflexes are naturally lagged responses and because clonus may be unsustained. In applying the model to clonus, there are some incongruities (notably inertia) that call for caution; however, published data suggest that they may not be important. These imperfections notwithstanding, the correspondence is remarkably good. The model dealt with here, being simple and economical, is a useful first step to genetics; and some empirically testable deductions from the model are listed.
Autosomal dominant tibial hemimelia–polysyndactyly‐triphalangeal thumbs syndrome: Report of a Brazilian family
Authors: Richieri‐Costa A. , de Miranda E. , Kamiya T. Y. , Freire‐Maia D. V. 
Published: June 2005

AbstractWe report on 3 persons in a 3‐generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.
Åland Island eye disease (Forsius‐Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia
Authors: Pillers De‐Ann M. , Weleber Richard G. , Powell Berkley R. , Hanna Cheryl E. , Magenis R. Ellen , Buist Neil R. M. 
Published: June 2005

AbstractGlycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both. Cytogenetic and molecular studies have localized these defects to a deletion in volving the X chromosome at band Xp21, consistent with its X‐linked recessive pattern of inheritance. Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, short stature, and hypogonadotropic hypogonadisem.We report on a 6‐year‐old boy who, in addition to the CGKD phenotype described above, had ocular hypopigmentation consistent with Forsius‐Eriksson ocular albinism, also known as type 2 ocular albinism or Åland Island eye disease. Cytogenetic analysis shows an interstitial deletion in the short arm of the X‐chromosome at Xp21.
Duplication of euchromatin without phenotypic effects: A variant of chromosome 16
Authors: Bryke Christine R. , Breg W. Roy , Potluri Venkateswara R. , Yang‐Feng Teresa L. 
Published: June 2005

AbstractA family with an unusual variant of chromosome 16 is presented. The mother and son both with additional material present in the short arm of chromosome 16 adjacent to the centromere are phenotypically normal. The extra C‐band negative region has been shown not to be composed of alpha satellite DNA. The literature regarding other familial cases of what appears to be the same variant of chromosome 16 is reviewed.
Terminal deletions of the long arm of chromosome 7: Five new cases
Authors: Bogart Mark H. , Cunniff Christopher , Bradshaw Christy , Jones Kenneth Lyons , Jones O. W. 
Published: June 2005

AbstractTwenty‐two cases of terminal deletions of the long arm of chromosome 7 have been reported. We present 5 new cases, 3 of which were ascertained due to fetal holoprosencephaly, one due to anencephaly, and one due to multiple structural defects in a 15‐year‐old boy. The presence of holoprosencephaly in 3 of the 5 cases reported herein and in 2 previously reported cases suggests that this manifestation may be commonly observed in individuals with deletion 7q.
Multiple congenital anomalies associated with a 47,XXX chromosome constitution
Authors: Hood Opal J. , Hartwell Elizabeth A. , Shattuck Karen E. , Rosenberg Harvey S. 
Published: June 2005

AbstractAn infant with a 47, XXX chromosome constitution, who died shortly after birth, had laryngeal atresia, pulmonary hypoplasia, craniofacial anomalies, urogenital malformations including unilateral renal agenesis, hydrometrocolpos and ovarian dysgenesis, and mildly abnormal endochondral ossification. Implications for genetic counseling are presented.
Identification of deletion and triple α‐globin gene haplotypes in the montreal β‐thalassemia screening program: Implications for genetic medicine
Authors: Akerman Beverly R. , Fujiwara T. Mary , Lancaster Gerald A. , Morgan Kenneth , Scriver Charles R. 
Published: June 2005

AbstractWe obtained blood samples in a screening program designed to detect β‐thalassemia heterozygotes in Montreal; additional samples were obtained from referred persons. We analyzed DNA for variant numbers of α‐globin genes, notably the α‐thalassemia2(‐ α/), α‐thalassemia1, (– –/), and triplicated ζ‐globin gene (ααα/) haplotypes using restriction enzymes and probes for α‐globin and α‐globin gene sequences. We estimated the numbers of Montreal residents of Italian and Greek ethnic origin with –α/αα genotype. Thus, 4.3% of Italians and 1.5% of Greeks, or about 7,500 persons, are estimated to be α‐thalassemia2, trait (silent carriers), largely (80%) in the –α3.7/type I form. The triplicated α‐globin gene haplotype was also found. The risk of a severe (α‐thalassemia1) phenotype associated with inheritance of – –;/αα or –α/ –α genotypes was low and was found predominantly in this study, in persons of Asian ethnic origin. The sample of Asians was too small to estimate carrier frequencies; however, based on results from the β‐thalassemia screening program, we estimated that about 4% of Asians (about 1,300 persons) in Montreal are α‐thalassemia carriers. We identified persons heterozygous for both β‐thalassemia and α‐thalassemia mutations. In these double heterozygotes, the effect of the triplicated α‐globin gene was to make the erythrocyte parameters used for screening (MCV and %HbA2) more deviant from normal whereas deletion of 2 α‐globin genes tended to normalize the erythrocyte values. These findings have implications for the screening program and reproductive counseling.
A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
Authors: Tonoki Hidefumi , Kishino Tatsuya , Niikawa Norio 
Published: June 2005

AbstractWe describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a “coarse” face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a “coarse” face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X‐linked semidominant gene.
Partial duplication 1q: Report of four patients and review of the literature
Authors: Rasmussen Sonja A. , Frias Jaime L. , Lafer Charlotte Z. , Eunpu Deborah L. , Zackai Elaine H. 
Published: June 2005

AbstractHere we report on 4 unrelated patients with reciprocal translocations which resulted in duplication of the distal portion of chromosome 1q. Although the patients had certain non‐specific malformations in common, our investigation and a review of the literature do not suggest the existence of a distinct phenotype due to this chromosome abnormality. We think that the coexisting deletion present in each of these patients is responsible for most of the observed differences in clinical manifestations. The variable phenotype makes clinical recognition difficult and precludes making a long‐term prognosis.
Autoimmune thyroiditis associated with mild “subclinical” hypothyroidism in adults with down syndrome: A comparison of patients with and without manifestations of Alzheimer disease
Authors: Percy Maire E. , Dalton Arthur J. , Markovic Vjerica D. , McLachlan Donald R. Crapper , Gera Edith , Hummel Jocelyn T. , Rusk Ann C. M. , Somerville Martin J. , Andrews David F. , Walfish Paul G. 
Published: June 2005

AbstractSerum tests of thyroid function were compared in Down syndrome (DS) patients with and without manifestations of Alzheimer disease (AD). Relative to control individuals, DS patients had, overall, lower mean total T4 (P = 0.070) and T3 (P = 0.015), higher T3U (P = 0.013) and TSH (P = 0.020), no difference in free T4, and higher thyroid antithyroglobulin (ATA) (P = 0.033) and antimicrosomal autoantibody (AMA) titres (P = 0.0097). Similar trends were apparent in DS males and females, and in DS patients off all drugs. In an analysis of case/control pairs with corrections for age and sex, DS patients with AD manifestations (n = 9) had significantly lower T3 (P = 0.029) and higher AMA (P = 0.043) than paired control individuals, whereas DS patients without AD manifestations (n = 20) had significantly lower T3 (P = 0.013) but higher ATA (P = 0.0065). T3 was significantly lower in the DS patients with AD manifestations than in the unaffected (P = 0.0013). These data suggest that autoimmune thyroiditis associated with a mild “subclinical” form of hypothyroidism is common in adult DS patients and more pronounced in patients with AD manifestations than in those without. This “subclinical” hypothyroidism may contribute to cognitive deficits in ageing DS patients.
New cases of dermoodontodysplasia?
Authors: Pinheiro Marta , Gomes‐de‐Sá‐Filho Floriano Peixoto , Freire‐Maia Newton 
Published: June 2005

AbstractWe report on 2 sisters and one brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. Four other relatives have only mild dental anomalies. Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations. Cause is unknown.
Social mechanisms in the population genetics of Tay‐Sachs and other lethal autosomal recessive diseases: A computer simulation model
Authors: McKusick Kathleen B. , Schach Stephen R. , Koeslag Johan H. 
Published: June 2005

AbstractA computer simulation model was developed to study the effects of various feudal social customs on the incidence of lethal autosomal recessive genes. Populations of 500 individuals were created in which each person was characterized by sibship, genotype, and sex. The numbered sibships were sorted into numerical order. Each individual then sought a mate from 6 or 12 sibships on either side of his or her own sibship. The resulting couples were sorted in order of the husband's sibship number, after which the couples produced children in accordance with the prevailing birth rate. This ordering of sibships made the probability of a gene remaining in one locality higher than the probability of it drifting to distant localities.A lethal autosomal recessive gene was introduced into populations at a starting carrier rate of 10%. This fell after 20 generations to 2.54 ± 0.17% (SEM) which was significantly less than the 5.00% carrier rate predicted by a deterministic model in which random mating occurred in an infinite population. The excessive loss of the lethal gene was caused by the high incidence of consanguineous marriages and by the occurrence of random inequalities in the distribution of the gene. The avoidance of sib marriages raised the final carrier frequency (3.28 ± 0.19%) as did reproductive compensation (4.33 ± 0.26%). The combination of the incest taboo and reproductive compensation raised the final carrier rate to 5.05 ± 0.28%. It is concluded that the social factors which may have operated over a period of many centuries in the past have had a significant effect on the population genetics of lethal autosomal recessive genes.
Use of a probe for the putative sex determining gene, Zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis
Authors: Erickson Robert P. , Verga Vera , Dasouki Majed 
Published: June 2005

AbstractUsing reverse genetics, a candidate for the sex determining gene from the Y chromosome has recently been cloned. We have used a DNA probe from this gene to assess the presence of this crucial region of the Y chromosome in patients with sexual ambiguity or gonadal dysgenesis. The DNA from 3 cases of gonadal dysgenesis, one complicated by somatic anomalies and mental retardation, reacted normally with this putative sex determining gene. A patient having a small phallus and pseudovaginal, perineoscrotal hypospadias (PPSH) also had normal Y chromosomal DNA. We hypothesize that the defect in sex determination in all 4 cases is most probably subsequent to the primary sex determining switch.
Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: A Hitherto Unreported syndrome?
Authors: Schinzel Albert , Bernasconi Sergio 
Published: June 2005

AbstractA 13‐year‐old boy and his 28‐year‐old sister had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; a narrow nose with prominent bridge and long septum; short upper lip; receding mandible; and short limbs with brachydactyly and clinodactyly of little fingers. The boy also had hypoplastic external genitalia and elevated FSH. Both are of normal intelligence. There is remote consanguinity of the (normal) parents. The 2 sibs probably represent a hitherto un‐recognized syndrome of possibly autosomal recessive inheritance.