bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three years' experience with neonatal screening for Duchenne/Becker Muscular dystrophy: Gene analysis, gene expression, and phenotype prediction
Authors: Greenberg Cheryl R. , Jacobs Hans K. , Halliday William , Wrogemann Klaus 
Published: June 2005

AbstractNeonatal screening for Duchenne/Becker Muscular dystrophy (DMD/BMD) was begun as a pilot program on January 1, 1986. The aim of this program was to reduce the incidence of this X‐linked recessive degenerative neuromuscular disease. The neonatal detection of a boy with DMD allows early identification of carriers and genetic counselling. This may avert the birth of other affected males born prior to clinical diagnosis of DMD in the propositus at about age 5 years. Between January 1, 1986, and December 31, 1988, we identified and characterized a cohort of 8 asymptomatic infant boys with grossly elevated levels of creatine kinase, an active primary dystrophic process of muscle and complete dystrophin deficiency. Five of 8 males have detectable DNA alterations involving the DMD/BMD locus. Based on current hypotheses, characterization of dystrophin expression of this cohort allows us to predict a DMD phenotype in all 8 boys. To date, no additional males with DMD have been born in these families. Prospective follow‐up will allow us to test the validity of dystrophin testing in predicting the clinical course and impact of this program on reproductive decision making in these families.
Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome
Authors: Borochowitz Zvi , Barak Mila , Hershkowitz Silvia 
Published: June 2005

AbstractRecently Maroteaux et al. [Am J Med Genet 32:371–375] described omodysplasia as a new distinct congenital bone disorder in 3 cases; autosomal dominant inheritance was suggested. In this same report, 2 other cases (patients 4 and 5) presented with the same facial and upper limb anomalies, but were also noted to have severe shortness of lower limbs. The authors considered all 5 cases to represent variable expressivity of the same disorder, namely, omodysplasia. Here we report 4 patients (3 survivors), offspring of consanguineous Arabic‐Moslem couples. All presented at birth with severe short limb dwarfism and facial and radiologic appearance quite distinct from the first 3 patients of Maroteaux et al. [1989] with so‐called omodysplasia. Thus, we suggest that our 4 cases and patients 4 and 5 of Maroteaux et al. [1989] represent a distinct, previously unpublished bone dysplasia.
Sex chromosome marker: Clinical significance and DNA characterization
Authors: Johnson Virginia P. , McDonough Paul G. , Cheung Sau W. , Sun Li 
Published: June 2005

AbstractTwo patients are described with a virtually identical marker sex chromosome that was so small as to defy classification by conventional cytogenetic studies. DNA hybridization with Y probes allows classification into Y or non‐Y, and in situ hybridization with X centromere specific sequences, into X or non‐X. One patient was proven to have a Y fragment, and the second, an X fragment. DNA characterization is important since prognosis and clinical management depends on proper identification of the small marker sex chromosome.
Hereditary hypotrichosis of the scalp
Authors: Hess Russell O. , Uno Hideo 
Published: June 2005

AbstractHypotrichosis of the scalp was found in 4 individuals of a 6‐generation Caucasian family. This congenital phenomenon is a rather rare subtype of hereditary hypotrichosis and affects only scalp hair. The hairs of the scalp were generally sparse and short vellus type from childhood and thinned progressively with age. Morphologic studies showed poor imbrication of cuticles and dysplastic bulbar structure of the anagen follicles. The density of hair follicles per/cm2 area was comparatively lower than that of normal individuals. The genealogical study and histomorphometrical findings of this autosomal dominant trait are discussed along with previously reported causes of hypotrichosis.
Partial deletion of chromosome 6p: Delineation of the syndrome
Authors: Palmer Catherine G. , Bader Patricia , Slovak Marilyn L. , Comings David E. , Pettenati Mark J. 
Published: June 2005

AbstractHere we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.
Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta
Authors: Goldblatt Jack , Carman Paul , Sprague Paul 
Published: June 2005

AbstractWe report a 3½‐year‐old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.
Tourette syndrome and autistic disorder: A significant relationship
Authors: Sverd Jeffrey 
Published: June 2005

AbstractThe histories of 10 children with autistic disorder or pervasive developmental disorder (PDD) cooccurring with familial Tourette syndrome (TS) are presented. Evidence from the histories of the patients and their relatives combined with other reports of cases of cooccurrence of TS and autism provides support for the hypothesis that TS may be responsible forcases of coocurrence of the disorders, contributes significantly to the etiological heterogeneity of autistic disorder and that a portion of cases of autism may actually be a result of homozygosity for the TS gene. In addition, the presence of affective disorders and autistic‐like syndromes or mild disturbances of social relatedness in some of the pedigrees suggests the hypothesis that TS may be responsible for a subgroup of families with cooccurring affective and autistic disorders and for some cases of familial aggregation of autism–PDD.
Clinical and genetic relationships between autism‐pervasive developmental disorder and Tourette syndrome: A study of 19 cases
Authors: Comings David E. , Comings Brenda G. 
Published: June 2005

AbstractChildren with autism or pervasive developmental disorder (PDD) and Tourette syndrome (TS) share a number of symptoms. Forty‐one cases have been reported in which PDD patients subsequently developed TS. We term this PDD→TS. We describe an additional 16 such patients plus 3 families where a close relative of a TS proband had autism. There was a high frequency of alcoholism, drug abuse, obsessive–compulsive, and other behavior disorders in the relatives of these patients. This frequency was virtually identical to that observed in relatives of individuals with TS only. We suggest there is an intimate genetic, neuropathologic relatedness between some cases of PDD and TS. Many observations have led us to suggest that the genetic defect in TS may be a mutation of tryptophan oxygenase and that TS is inherited as a semidominant semirecessive trait, i.e., homozygosity for a common gene which shows some expression in the heterozygous state. We propose that some types of PDD are inherited in the same fashion and by the same gene. This would explain the similarity of symptoms, frequent evolution of PDD into TS, the apparent recessive inheritance of PDD despite no increase in consanguinity, the high frequency of behavior problems in the relatives of PDD→TS patients and the serotonin abnormalities.
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs
Authors: Heimler Audrey , Fox Joyce E. , Hershey Joel E. , Crespi Paul 
Published: June 2005

AbstractA brother and sister born to normal, nonconsanguineous parents have a syndrome of profound sensorineural hearing deficiency, enamel hypoplasia limited to the permanent dentition, and nail abnormalities. This appears to be a previously unreported inherited syndrome.
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma
Authors: Kloss Kai , Währisch Petra , Greger Valerie , Messmer Elmar , Fritze Henning , Höpping Wolfgang , Passarge Eberhard , Horsthemke Bernhard 
Published: June 2005

AbstractDNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB‐1) gene. Qualitative and quantitative evaluation of the Southern blot patterns showed a deletion of all or part of the RB‐1 gene in 15 patients. Deletion hot spots were not detected. The study shows that 16% of germ cell mutations are detectable by Southern blot hybridization, but that densitometric analysis is required in most cases.
Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)
Authors: Wamsler Christine , Müller Bertram , Freyberger Gabriele , Schmid Michael 
Published: June 2005

AbstractA 3 3/12‐year‐old girl with multiple anomalies is reported. An interstitial deletion del(2)(q24q31) was demonstrated. There is considerable overlap of symptoms in cases with del(2)(q31q33), which are reviewed.
Genetic analysis of Huntington disease in Italy
Authors: Ajmar F. , Mandich P. , Bellone E. , Abbruzzese G. 
Published: June 2005

AbstractTwelve Italian families with Huntington disease were tested with 10 probes known to be linked to the disease locus and able to detect polymorphisms at the following loci on chromosome 4: D4S10, D4S127, D4S95, D4S43, D4S115, D4S111, D4S90. The results confirmed the applicability of the linkage approach for presymptomatic diagnosis in Italian families. Positive lod scores were found between D4S10, D4S95, D4S43 and the disease, wherease D4S90 did not indicate significant linkage values. With the limitations due to the small size of the tested sample, no genetic heterogeneity was detected in the families examined for loci D4S10, D4S95/S127, D4S43.
DiGeorge anomaly associated with 10p deletion
Authors: Monaco Giuseppe , Pignata Claudio , Rossi Elena , Mascellaro Ornella , Cocozza Sergio , Ciccimarra Filippo 
Published: June 2005

AbstractDiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described. We report on an additional case of partial DGA associated with 10p deletion.
Family with 22‐derived marker chromosome and late‐onset dementia of the Alzheimer type: I. Application of a new model for estimation of the risk of disease associated with the marker
Authors: Percy Maire E. , Markovic Vjerica D. , McLachlan Donald R. Crapper , Berg Joseph M. , Hummel Jocelyn T. , Laing Marlene E. , Dearie Thomas G. , Andrews David F. 
Published: June 2005

AbstractWe have identified 2 sisters with probable dementia of the Alzheimer type who have an unusual 22‐derived marker chromosome with a greatly elongated short arm containing 2 well‐separated nucleolus organizer regions. A marker chromosome similar in appearance is uncommon in the general population. Eleven of 24 of their biological relatives were also found to have the marker. The known pedigree of this family encompasses 6 generations in 2 of which there is evidence of 10 cases of dementia of the Alzheimer type. The average age‐at‐onset of dementia is 65.8 ± 5.5 years; the average age‐at‐death among those apparently affected is 74.9 ± 8.3 years. A new model for the estimation of risk was applied to the family data. Persons in this family with the marker were found to be 4 times more likely to develop dementia than those without the marker, the 95% confidence interval for this risk being 1–50. The probability that the association of dementia and the marker is due to chance alone is.05 (1 in 20).
Postmortem chorionic villus sampling: Correlation of cytogenetic and ultrasound findings
Authors: Sorokin Yoram , Johnson Mark Paul , Uhlmann Wendy R. , Zador Ivan E. , Drugan Arie , Koppitch Frederick C. , Moody Joyce , Evans Mark I. 
Published: June 2005

AbstractWe performed chorionic villus samplings (CVS) in 795 cases in the first trimester during a 13‐month period. Of these 35 were found to have a blighted ovum or missed abortion prior to the procedure. Nineteen women consented to have CVS. Ultrasonographic and cytogenetic findings in these 19 pregnancies were correlated. Expected gestational age was determined by last menstrual period. Observed gestational age was determined by crown rump length (CRL) (12 pregnancies) or gestational sac (GS) (7 pregnancies without fetal pole). The differences in days between the estimated and observed gestational ages was determined for each pregnancy. In all 19 CVS samples cytogenetic diagnosis documented aneuploidy. Ten cases had chromosome abnormalities virtually always lethal in the embryonic period (group I). Nine pregnancies had defects with moderate potential for fetal viability (group II). Gestations with low viability potential (group I) had estimated minus observed gestational age discrepancies (23.4 ± 8.3 days) significantly greater than gestations with moderate viability potential (group II) (8.9 ± 4.3 days) (P < .001). The absence of a fetal pole was more common in group I. CVS in pregnancies with missed abortion or blighted ovum is feasible and has a high likelihood of documenting aneuploidy. Furthermore, the more severe the anomaly the more likely there will be very early fetal demise or intrauterine growth retardation.
Molecular characterization of severe α‐Thalassemias causing hydrops fetalis in Taiwan
Authors: Ko Tsang‐Ming , Hsieh Fon‐Jou , Hsu Pi‐Mei , Lee Tzu‐Yao 
Published: June 2005

Abstractα‐Thalassemia hydrops fetalis is a common disorder in Taiwan. The condition causes perinatal death and many maternal obstetrical complications. In order to determine the molecular defects of this condition in Chinese, 87 unrelated families with this disorder were collected in the past 4 years. The molecular defects were studied by Southern blotting and DNA hybridization with φζ1‐globin gene and LO (a 0.4 kb BamHI/EcoRI fragment in the 5′ flanking region of the ζ2‐globin gene) probes. Eighty‐one (93.1%) fetuses had homozygous Southeast Asian deletion (– –SEA/– –SEA). Five (5.7%) fetuses were compound heterozygotes for the Southeast Asian deletion and Thailand deletion (– –SEA/– –THAI). The remaining fetus was a compound heterozygote for the Southeast Asian deletion and an uncharacterized nondeletional defect (– –SEA/(αα)Th). The molecular defects of α‐thalassemia hydrops fetalis in Chinese are heterogeneous. This fact has important implications for genetic counseling and prenatal diagnosis.
Pseudo‐trisomy 13 syndrome
Authors: Cohen M. Michael , Gorlin Robert J. 
Published: June 2005

AbstractWe have coined the term “pseudo‐trisomy 13 syndrome” to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. Eleven instances are summarized. Two pairs of sibs and two other cases with consanguinity suggest autosomal recessive inheritance. Autosomal recessive inheritance is possible. Alternately, an undetected microdeletion and etiologic heterogeneity (some cases possibly representing dominant new mutations) must be considered. Further delineation is necessary. It is hoped that this paper will serve as a focus for further discussion of the problem.
Facio‐cardio‐renal (Eastman‐Bixler) syndrome
Authors: Nevin N. C. , Hill A. E. , Carson D. J. 
Published: June 2005

AbstractWe report on a 5‐year‐old boy with moderate mental retardation, horseshoe kidneys, tricuspid valve prolapse, and a characteristic face with broad nasal root, prominent ears, and a cleft palate. These manifestations suggested the diagnosis of the Eastman‐Bixler syndrome. Our patient also had an isolated growth hormone deficiency which responded successfully to treatment.
Crossed polydactyly type I in a mother and son: An autosomal dominant trait?
Authors: Ishikiriyama Satoshi , Sawada Hiroyuki , Nambu Haruo , Niikawa Norio 
Published: June 2005

AbstractIn a Japanese family, a propositus and his mother had crossed polydactyly type I. A maternal grandaunt also had preaxial polydactyly of the feet. The findings that both of the mother and son had the identical type of polydactyly are consistent with an autosomal dominant inheritance with variable expressivity. Other explanations include X‐linked recessive inheritance, polygenic inheritance, and a chance occurrence of the 2 different kinds of polydactyly.
Chromosome instability and X‐ray hypersensitivity in a microcephalic and growth‐retarded child
Authors: Barbi Gotthold , Scheres Jacques M. J. C. , Schindler Detlev , Taalman Rob D. F. M. , Rodens Klaus , Mehnert Karl , Müller Max , Seyschab Helga 
Published: June 2005

AbstractWe report on a microcephalic, growth‐retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiectasia (AT) or a related disorder. Supportive evidence was radioresistant DNA synthesis in fibroblasts and radiation hypersensitivity of short‐term lymphocyte cultures. Follow‐up for nearly 4 years showed largely normal development, and no signs of telangiectasia, ataxia, or immunodeficiency. Serum AFP levels turned from elevated at age 5 months to normal at age 2 years. We propose that our patient belongs to the expanding category of “AT‐related” genetic disorders, probably to the Nijmegen breakage syndrome.
46,XX gonadal dysgenesis with epibulbar dermoid
Authors: Quayle Sara A. , Copeland Kenneth C. 
Published: June 2005

AbstractPure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. Although sensorineural deafness has been described with 46,XX gonadal dysgenesis, the majority of reported cases of 46,XX gonadal dysgenesis have no associated physical abnormalities. We report a patient with 46,XX gonadal dysgenesis associated with epibulbar dermoids and preauricular skin tags, the classic ocular and skin manifestations of Goldenhar sequence (oculoauricular vertebral dysplasia). We propose that our patient may represent a new and previously unreported syndrome.
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia
Authors: Pulst Stefan‐M. , Pribyl Thomas , Barker David F. , Riccardi Vincent M. , Ren Meina , Yaari Hana , Korenberg Julie R. 
Published: June 2005

AbstractThe gene for von Recklinghausen neurofibromatosis (NF1) is on proximal 17q; the location of the gene for achondroplasia (ACH) is unknown. We have begun a molecular analysis of a patient with mental retardation, NF1 and ACH, a clinical presentation suggestive of a contiguous gene syndrome. In addition, this individual has a 47,XYY chromosome constitution. To define a possible chromosome 17 deletion, we investigated the copy number of DNA sequences linked to NF1 with conventional and pulsed‐field gel electrophoresis (PFGE). We found no evidence for a deletion on chromosome 17. These results make it unlikely that this patient harbors a single deletion in the NF1 region causing both NF1 and ACH and suggest different mechanisms for the de novo occurrence of 2 autosomal dominant disorders in this individual.
Congenital lung herniation
Authors: Neilands Pamela S. , Kurczynski Thaddeus W. , Elshafie Mohammed A. F. , Uraizee Faheem 
Published: June 2005

AbstractCongenital lung herniation is a rare condition. It is usually associated with a costal cartilage defect. We report on a newborn boy with a partial lung herniation through the parietal pleura and skin associated with a sternal malformation. We propose the herniation occurred around the fifth month of fetal life and interfered with sternal ossification.
Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship
Authors: van Dorp Dieuwke B. , Palan Alzbeta , Kwee Mei Lan , Barth Peter G. , van der Harten Johan J. 
Published: June 2005

AbstractA severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy‐Walker malformation, hypoplasia of the corpus callosum, occipital meningo‐encephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. This is the first male described so far with both coloboma and other midline defects. A detailed autopsy on an affected female fetus from the mother's second pregnancy is presented.
Father and two children with total anomalous pulmonary venous connection
Authors: Raisher Bradley D. , Dowton S. Bruce , Grant James W. 
Published: June 2005

AbstractTotal anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of familial recurrence of TAPVC have involved sibs, first cousins, and twins. This is the first report of TAPVC in a father and his 2 children. The implications for genetic counseling to families with this anomaly and individuals reaching adulthood after repair of TAPVC are considered.
Identification of the origin of centromeres in whole‐arm translocations using fluorescent in situ hybridization with α‐satellite DNA probes
Authors: Tharapel Avirachan T. , Qumsiyeh Mazin B. , Martens Paula R. , Tharapel Sugandhi A. , Dalton James D. , Ward Jewell C. , Wilroy R. Sid 
Published: June 2005

AbstractWe detected 2 patients with whole‐arm translocations resulting in a derivative chromosome consisting of 18q and 21q. Because the breakpoints were near the centromere, classical cytogenetic techniques could not determine the centromeric origin of the derivative chromosomes. Using nonradioactive in situ hybridization with a chromosome 18 α‐satellite DNA probe (D18Z1), the centromeres in the abnormal chromosomes were determined to be from chromosome 18. The abnormality in one patient resulted in monosomy 18p with a karyotype 45, XX, −18, −21, + der(18)t(18;21) (p11;q11)mat complement. The second patient with a 46, XX, −21, + der(18)t(18;21)(p11;q11) de novo karyotype had complete trisomy of 18q. In both cases the appropriate phenotype was observed.
Hyperekplexia: Pedigree studies in two families
Authors: Hayashi Takashi , Tachibana Hidetoshi , Kajii Tadashi 
Published: June 2005

AbstractWe report on 2 unrelated Japanese families, each with several individuals affected with hyperekplexia, a rare autosomal dominant form of exaggerated startle response of neonatal onset. In the first family, affected relatives included a 4‐week‐old boy, his mother, grandmother, a maternal uncle, and 2 maternal cousins. In the second family, affected were a 4‐week‐old boy, his father, and an elder brother. These 9 individuals had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus and an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment with clonazepam was effective in relieving these manifestations in the affected infants and children.Genetic analysis of these 2 families and 4 others in the literature suggests autosomal dominant inheritance with considerable variability but complete penetrance. Another 3 families in the literature were reported, suggesting the existence of startle disorder with an autosomal recessive inheritance. A sporadic case is also known, presumably representing a fresh mutation of a dominantly inherited trait.
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia
Authors: Rambaud‐Cousson Annie , Dudin Anwar A. , Zuaiter Ahmad S. , Thalji Amin 
Published: June 2005

AbstractWe report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the possibility that syndactyly type IV may be a more complex entity, including lower limb malformations, and transmitted as autosomal dominant with variable expressivity.