bluuebunny/crossref_metadata_2025_split huggingface dataset:
High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement
Authors: Qumsiyeh Mazin B. , Wilroy R. Sid , Peeden Joseph N. , Tharapel Avirachan T. 
Published: June 2005

AbstractMolecular cytogenetic techniques were used to delineate a subtle chromosome rearrangement in an infant with growth and psychomotor retardation, abnormal scalp hair pattern, narrow palpebral fissures, broad nasal bridge, bulbous nose, small nostrils, thin lips in a cupid's bow configuration, bilateral simian creases, and unilateral cryptorchidism. Analysis using GTG‐banded chromosomes at about 400 band level showed no obvious abnormality. Prometaphase analysis at about 600 band level showed an extra band at 14q32 on GTG‐banding. The father had the same extra band suggesting a reciprocal translocation but the second chromosome involved in the translocation could not be identified. High resolution replication banding on the father's lymphocytes showed a balanced reciprocal translocation 46,XY,rcp(8;14)(q24.1;q32.1). The translocation was confirmed by in situ hybridization with an immunoglobulin heavy chain probe which maps to 14q32.3. The infant therefore had duplication of 8q24.1→qter and deficiency of 14q32.1→qter. His phenotype resembled that of patients with partial duplications of the distal long arm of chromosome 8.
PCR detection of distal Yp sequences in an XX true hermaphrodite
Authors: Nakagome Yosuo , Seki Satoko , Fukutani Keiko , Nagafuchi Shigeo , Nakahori Yutaka , Tamura Takashi 
Published: June 2005

AbstractAn XX true hermaphrodite was examined for the presence of Y‐specific sequences using Southern‐blotting and polymerase chain reaction (PCR) techniques. of 25 loci examined, only two, the proximal border of the pseudoautosomal region (PABY) and the sex determining region of the Y chromosome (SRY), were detected. A crossing over event in paternal meiosis, proximal to the SRY locus but distal to the zinc finger protein (ZFY) locus, presumably transferred to two loci to the chromosome.
Otto Ullrich and his syndromes
Authors: Wiedemann Hans‐Rudolf 
Published: June 2005

AbstractA half‐century ago Otto Ullrich became the first clinical geneticist to assume the Chairmanship of a clinical department in a medical school. Clinical genetics owes Ullrich the delineation and definition of several important genetic diseases and syndromes, most importantly the condition named after him and Henry Turner. This paper reports on Ullrich's teacher, his career, his personality, and “his” syndromes.
Value of clinical analysis in epidemiological research: The Spanish registry experience
Authors: Martínez‐Frías M. L. , Frías J. L. , Rodríguez‐Pinilla E. , Urioste M. , Bermejo E. , Cereijo A. , Gaya F. 
Published: June 2005

AbstractUsing data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), a hospital‐based, case‐control study and surveillance program, we investigated the potential value of registry systems in the identification of causes of congenital defects when their methodology includes (1) detailed reporting and coding of all anomalies present in each child, whether major or minor, (2) clinical analysis and coding of the global pattern of anomalies present in each infant, and (3) classification of all children studied according to their clinical presentation.These approaches provide great specificity and flexibility in the retrieval and analysis of data. Not only do they permit the study of specific anomalies, but also the analysis of children with MCA patterns, as well as the study of the relationship of specific defects with the rest of the anomalies present in a child.To illustrate this point, we present general data on 15,307 malformed children and more specific information on 153 cases of anal atresia/stenosis identified among the 753, 410 livebirths surveyed by the ECEMC between April 1976 and September 1989.
Familial renal‐hepatic‐pancreatic dysplasia and Dandy‐Walker cyst: A distinct syndrome?
Authors: Hunter A. G. W. , Jimenez C. , Tawagi F. G. R. 
Published: June 2005

AbstractIvemark et al. first described sibs with renal‐hepatic‐pancreatic dysplasia (RHPD) (Ivemark BI, Oldfelt V, Zetterström R (1959): Acta Pediatr Scand 48:1–11). Subsequent reports of affected individuals have described additional malformations and syndromes associated with RHPD. In this paper we describe 2 sibs with RHPD in association with Dandy‐Walker cyst (DW). Through an examination of the pattern of associated malformations seen in RHPD we argue that RHPD‐DW is a distinct monogenetic syndrome, and not an association.
Acceptance of chorionic villus sampling in the southwest region of the Netherlands: A 5‐Year evaluation
Authors: Brandenburg H. , Jahoda M. G. J. , Los F. J. , Wladimiroff J. W. 
Published: June 2005

AbstractThe acceptance of chorionic villus sampling (CVS) for monitoring pregnancies at risk for chromosomal and genetic disorders was studied from its introduction in the Centre for Clinical Genetics in Rotterdam in 1984 until 1988. Special attention was given to increasing acceptance in the group with advanced maternal age (AMA) (12.6% CVS in 1984, 52.2% CVS in 1988) and the group with a high genetic risk (HGR) (42.7% in 1984, 86.7% in 1988). The odds‐growth‐rate in CVS was 1.64 and 1.67 respectively, which was not significantly different. The relatively limited use of CVS at AMA is most likely determined by the fact that a considerable number of patients are referred too late in pregnancy to have the option of CVS.
Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families
Authors: Costakos Deborah , Abramson Ruth K. , Edwards Janice G. , Rizzo William B. , Best Robert G. 
Published: June 2005

AbstractOne hundred and thirty‐six individuals with a family history of X‐linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X‐linked inheritance, and attitudes toward prenatal, presymptomatic, and carrier testing. Of the respondents, 68% indicated that they would use prenatal testing. Of these, 57.1% would terminate a pregnancy of a male fetus hemizygous for the ALD gene and 13.5% would reportedly choose to terminate a heterozygote female fetus. Presymptomatic testing would be used by 88.7% of respondents to test at‐risk sons and carrier testing would reportedly be used by 95.4% of respondents to test their at‐risk daughters. Respondents correctly answered an average of 61% of the questions testing understanding of X‐linked inheritance. This indicates a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X‐linked inheritance.
Mitochondrial DNA deletion in a girl with manifestations of Kearns‐Sayre and Lowe syndromes: An example of phenotypic mimicry?
Authors: Moraes Carlos T. , Zeviani Massimo , Schon Eric A. , Hickman Robert O. , Vlcek Brien W. , DiMauro Salvatore 
Published: June 2005

AbstractLowe oculocerebrorenal syndrome is an X‐linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. Molecular genetic analysis of muscle mitochondrial DNA showed the presence of a population of partially deleted mtDNAs (heteroplasmy). The deletion was 7803 bp long and encompassed several genes encoding subunits of the respiratory chain enzymes. Our results suggest that mitochondrial DNA deletions may mimic several symptoms of the Lowe phenotype and reinforce the concept that a defect of mitochondrial metabolism could be involved in the pathogenesis of the X‐linked disease.
Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype
Authors: Wolff Daynna J. , Raffel Leslie J. , Ferré Merry M. , Schwartz Stuart 
Published: June 2005

AbstractDirect two‐generation transmission of an unbalanced 18p + chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalities.
Delineation of the costello syndrome
Authors: Martin Rick A. , Jones Kenneth Lyons 
Published: June 2005

AbstractWe present a 15‐year‐old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical findings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et al.
Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization
Authors: Speleman Frank , Leroy Jules G. , Van Roy Nadine , De Paepe Anne , Suijkerbuijk Ron , Brunner Han , Looijenga Leendert , Verschraegen‐Spae Marie‐Rose , Orye Edward 
Published: June 2005

AbstractThe isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister‐Killian syndrome and one deceased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12‐specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister‐Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.
New form of postaxial acrofacial dysostosis?
Authors: Arens Raanan , Reichman Brian , Katznelson Mariassa Bat‐Miriam , Goodman Richard M. 
Published: June 2005

AbstractWe report on a 2‐month‐old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.
Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome
Authors: Charrow Joel , Poznanski Andrew K. , Unger Frances M. , Robinow Meinhard 
Published: June 2005

AbstractWe describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome.
Tracheomalacia in Hallermann–Streiff Syndrome
Authors: Salbert Bonnie Anne , Stevens Cathy A. , Spence J. Edward 
Published: June 2005

AbstractWe report on a white boy with Hallermann–Streiff syndrome (HSS) who also had tracheomalacia. Chronic respiratory insufficiency led to biventricular failure and death at age 6 months. There have been no previously reported cases of Hallermann–Streiff syndrome with documented tracheomalacia. However, there may be cases in which tracheomalacia may have been present, but not diagnosed. The literature contains 6 HSS cases with severe respiratory symptoms. Tracheomalacia should be considered in a patient with HSS who presents with an unusual cry, stridor, choking, or apnea. With the availability of surgery and supportive treatment, early diagnosis of tracheomalacia in these patients may prevent death and secondary neurologic insult from acute hypoxia.
Complete sequence of human cardiac α‐myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences
Authors: Matsuoka Rumiko , Beisel Kirk W. , Furutani Michiko , Arai Shoichi , Takao Atsuyoshi 
Published: June 2005

AbstractWe have obtained the 5820 nucleotide sequence encoding all 1939 amino acids of the human cardiac α‐myosin heavy chain (α‐MHCThe sequence has been deposited in the DDBJ base. (Accession no. D00943)
), as established by dideoxy sequencing of cloned cDNA, genomic DNA and polymerase chain reaction (PCR) amplification products. This sequence represents overlapping fragments of the entire coding sequence. Amino acid sequence comparison of the human cardiac α‐MHC with the published human cardiac β‐MHC have demonstrated that there are, at least, 7 isoform‐specific divergent regions, including functionally important binding protein‐related sites such as ATP, actin and myosin light chain. It has been reported that in the rat, there are 8 isoform‐specific divergent regions. The 7th divergent area (residue area 1633‐1657, which is thought to mediate thick filament formation) in the light meromyosin region in the rat is not apparent in the human. The amino acid compositions of cardiac α‐ and β‐MHCs in the human and the rat, and human embryonic skeletal muscle and chicken gizzard smooth muscles were compared. Amino acid sequences in cardiac α‐ and β‐MHCs in the human and the rat are well conserved. In the head portion, the amino acid composition divergence of human cardiac α‐MHC is ranked between rat cardiac α‐MHC and human cardiac β‐ or rat cardiac β‐MHC; human skeletal muscle MHC is the most divergent of the myosin isoform examined. These data predict that human cardiac α‐MHC may have undergone evolutionary changes toward obtaining the biochemical and physiological properties of cardiac β‐MHC.
Autosomal dominant inheritance of tetramelic monodactyly
Authors: Sommer Annemarie , Hines Stefani J. 
Published: June 2005

AbstractWe report on tetramelic monodactyly with autosomal dominant inheritance. The propositus and all affected relatives had only digital malformations as determined by physical examination or history. Since it could not be determined that the involved digits of the propositus or relatives were fifth fingers and toes, we conclude this to be the first report of this type of hand and foot malformation with autosomal dominant inheritance.
Diagnostic value of ophthalmologic findings in myotonic dystrophy: Comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms
Authors: Ashizawa T. , Hejtmancik J. F. , Liu J. , Perryman M. B. , Epstein H. F. , Koch D. D. 
Published: June 2005

AbstractTo determine diagnostic value of lens opacities in myotonic dystrophy (DM), we examined 98 at‐risk members of 9 DM kindreds. Haplotype analysis of restriction fragment length polymorphisms (RFLPs) using ApoC2, CKMM, and pEFD4.2 supported the diagnosis of DM in 33 and excluded the diagnosis in 51 members. The sensitivities of bilateral iridescent lens opacities, posterior cortical lens opacities, orbicularis oculi weakness, low intraocular pressure, ptosis, and ocular myotonia were 46.7, 50.0,60.6,59.3,51.5, and 3.0%, while their specificities were 100.0, 100.0, 98.0, 94.1, 96.1, and 100.0%, respectively. A peripheral pigmentary degeneration and central macular lesions of retina were not found on indirect fundoscopy. In 86.2% of DM patients, bilateral iridescent lens opacities, posterior cortical lens opacities, or both were present. Unilateral iridescent lens opacities occurred in only 3 of our DM patients, and 2 of non‐DM relatives showed a few unilateral iridescent particles. Posterior cortical lens opacities in DM patients always affected both eyes in this series. We conclude that 1) bilateral iridescent lens opacities and posterior cortical lens opacities are highly specific for DM and useful for establishing clinical diagnosis of DM, 2) unilateral iridescent lens opacities are infrequent in DM and are seen in some non‐DM members, and 3) ocular myotonia and clinical retinopathies are rare in DM.
Head circumference of children with Down syndrome (0–36 months)
Authors: Palmer Christina G. S. , Cronk Christine , Pueschel Siegfried M. , Wisniewski Krystyna E. , Laxova Renata , Crocker Allen C. , Pauli Richard M. 
Published: June 2005

AbstractThis study provides statistically appropriate head circumference reference curves for males and females with Down syndrome (DS) from birth to 36 months of age. A total of 239 males and 182 females from five study populations, yielding a combination of cross‐sectional and longitudinal data, were used for the analysis. The method of least squares was used to test the fit of the growth model y = a + bx + c[log(x + 1)], where x is age in months. These standardized curves should provide information of value in the medical, physical, and developmental management of children with DS.
Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field
Authors: Carmi Rivka , Boughman Joann A. 
Published: June 2005

AbstractFive cases of the Pentalogy of Cantrell (PC), ascertained through the Baltimore–Washington population‐based study of infants with congenital cardiovascular malformations, represent a regional prevalence of 5.5/1 million liveborn infants for this disorder. Three of these patients had cleft lip with or without palate. Review of the reported literature of the Pentalogy of Cantrell and various combinations of the anomalies within the spectrum of this pentad suggests that the PC defines a specific midline ventral developmental field. Cleft lip with or without cleft palate and encephalocele tend to specifically associate with ventral midline anomalies within the spectrum of PC. These associations might either illustrate the previously observed tendency of specific occurrence of certain combinations of midline defects or represent defined subunits of the midline developmental field.
Rett syndrome: A search for gene sources
Authors: Åkesson Hans Olof , Hagberg Bengt , Wahlström Jan , Engerström Ingegerd Witt 
Published: June 2005

AbstractA series of 77 Swedish females with classical Rett syndrome were genealogically traced as far back as possible, in most cases to 1720–1750, or 7–10 generations. Details were collected concerning approximately 8,000 ancestors. Common ancestry was seen in 2 pairs of females with Rett syndrome. Thirty‐nine of the 77 Rett females were traced to 9 small and separate rural areas, and 17 pairs even came from the same farm or homestead. The common origin was found equally often among descendants of the father as of the mother. In 9 cases, the father came from one and the mother from another of the 9 specific “Rett areas.” These observations, combined with the finding of a raised rate of consanguineous marriages in the paternal as well as in the maternal ancestry, point to a genetic transmission. Analyses of parental ages at birth and of birth order gave normal results.
Deletion of chromosome 15pter→q11.2 due to t(Y;15) in a boy with Prader‐Willi syndrome
Authors: Qumsiyeh Mazin B. , Dalton James D. , Gordon Patricia L. , Wilroy R. Sid , Tharapel Avirachan T. 
Published: June 2005

AbstractChromosome analysis of lymphocytes from a patient with the clinical presentation of Prader‐Willi syndrome showed the presence of 45 chromosomes, including a der(Y) resulting from an unbalanced t(Y;15)(q12;q11.2). In situ hybridization using DYZ3 and DYZ2 showed positive signals at the paracen‐tromeric region on the short arm and at the heterochromatic region of the long arm of the Y chromosome, respectively. The Prader‐Willi syndrome in this patient is caused by the deficiency of a very small region involving 15cen→q11.2.
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: Nosology of Goltz‐Gorlin syndrome versus EEC syndrome
Authors: Rodini E. S. O. , Nardi A. , Guion‐Almeida M. L. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz‐Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.
Intrafamilial variability in cleidocranial dysplasia: A three generation family
Authors: Chitayat David , Hodgkinson Kathy A. , Azouz E. Michel 
Published: June 2005

AbstractWe present a 3‐generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the condition. This intrafamilial variation illustrates the need for clinical assessment of family members following the birth of an apparent sporadic case of CCD.
Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: A single gene disorder?
Authors: Chitayat David , McIntosh Nathalie , Fouron Jean‐Claude 
Published: June 2005

AbstractWe report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.
Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis
Authors: McIntosh Nathalie , Chitayat David , Bardanis Marietta , Fouron Jean‐Claude 
Published: June 2005

AbstractThe Ebstein anomaly is a rare congenital heart disease involving the position and structure of the tricuspid valve. Although most cases are sporadic, familial occurrence has been documented. We report on 2 sisters, born to consanguineous parents, who were diagnosed prenatally with severe Ebstein anomaly.
Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome
Authors: Petit Paul , Moerman Philippe , Fryns Jean‐Pierre 
Published: June 2005

AbstractWe present a female fetus with the lethal acrofacial dysostosis syndrome recently delineated by Rodriguez et al. [1990]. The present findings confirm that this syndrome constitutes a true MCA syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, the urogenital tract, heart, and lungs.