bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial simple hypohidrosis with abnormal palmar dermal ridges
Authors: Frydman Moshe , Cohen Herman A. , Kauschansky Arieh , Matoth Yehuda , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA brother and sister born to nonconsanguineous, Iranian Jewish parents were found to have simple hypohidrosis. Pilocarpine produced only little sweating, and external heat and physical effort were associated with elevation of body temperature. Abnormal palmar dermal ridges were considered to be associated with paucity of sweat pores and glands. Biopsy supported this view since only one normal sweat gland and duct was found in a 5 mm punch.
Obesity in achondroplasia
Authors: Hecht Jacqueline T. , Hood Opal Jean , Schwartz Robert J. , Hennessey Jill C. , Bernhardt Barbara A. , Horton William A. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractObesity is a significant and potentially serious health problem in achondroplasia. Body mass indices, weight‐to‐square of the height ratio (W/H2), and triceps skinfold measurements show that obesity is common. It begins in early childhood and is prevalent at all ages. We recommend that weight be monitored closely in all persons with achondroplasia and that dietary intervention be instituted whenever the body mass indices, W/H2, and triceps skinfold measurements exceed the 95th centile for the general population.
Complex glycerol kinase deficiency: Molecular‐genetic, cytogenetic, and clinical studies of five Japanese patients
Authors: Matsumoto Tadashi , Kondoh Tatsuro , Yoshimoto Masaaki , Fujieda Kenji , Matsuura Nobuo , Matsuda Ichiro , Miike Teruhisa , Yano Koichi , Okuno Akimasa , Aoki Yoshiharu , Murano Ichiro , Toyota Shigeki , Ohnishi Shouju , Niikawa Norio , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractFive male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular‐genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High‐resolution GTG‐banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers. Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99‐6, B24, C7, L1‐4, cDMD13‐14, J66‐HI, P20, J‐Bir, ERT87‐30, ERT87‐15, ERT87‐8, ERT87‐1, XJ‐1.1, 754, cx5.7, and OTC‐1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers. Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1‐4 and cDMD 13‐14. This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment. A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD). The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter—GTD—AHC—GK—DMD—OTC—cen.
G syndrome: An unusual family
Authors: Allanson Judith E. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractThe G syndrome is a multiple congenital anomaly (MCA) syndrome of hypertelorism., hypospadias, stridor, and swallowing difficulties. Cleft lip and palate, cardiac defects, cranial asymmetry, and bowel obstruction are occasional manifestations. Family data suggest autosomal dominant inheritance. Males appear to have more serious manifestations, whereas most females with the G syndrome have a benign course and are ascertained through affected male relatives.In the family reported here, the proposita was first seen at age 7 weeks because of swallowing difficulties., stridor, and unusual facial appearance, reminiscent of the G syndrome. Evaluation of the family showed striking facial changes in her father and all four of his sibs. These five individuals had megalencephaly, hypertelorism., and a broad prominent nasal root and bridge, reminiscent of the facial appearance in the BBB syndrome. There was no evidence for dysphagia, respiratory abnormality, or hoarse voice in any other relative.These individuals with the G syndrome display two unusual manifestations. There are no males with hypospadias; the proposita has the most severe laryngotracheoesophageal symptoms. Although hypospadias is not an invariable manifestation of the G syndrome and although six females with severe dysphagia or respiratory abnormalities have been reported previously, the manifestations in this family underline the variability of this condition and provide further support that the G syndrome can be expressed with equal severity in both males and females.Although phenotypic overlap between the BBB and G syndromes has long been recognized, many still consider them to be distinct nosologic entities. The occurrence of both BBB and G syndrome in different members of the same family has been observed previously. In this family the characteristic phenotype of the G syndrome in our proposita, coupled with traits in keeping with the BBB syndrome in her father and his sibs, adds credence to the contention that the G and the BBB syndromes are but different expressions of the same mutant gene.
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis
Authors: Martin A. O. , Northrup H. , Ledbetter D. H. , Trask B. , van den Engh G. , Beau M. M. Le , Beaudet A. L. , Gray J. W. , Sekhon G. , Krassikoff N. , Booth C. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractDistinguishing between balanced and unbalanced chromosome complements segregating from parental rearrangements may be difficult using only classical cytogenetic techniques if banding morphology is similar under both expectations. In these situations, supplementing cytogenetic analysis with molecular genetic techniques and flow cytometry may provide increased diagnostic accuracy. To illustrate this, we present a case in which similar band pattern morphology would be expected for both the balanced carrier (heterozygote) and the recombinant dup q chromosome complements segregating from a mother with a balanced inversion [46,XX,inv(5)(p13q33)]. The parents came to Northwestern for consultation after receiving conflicting interpretations of their first amniotic fluid cultures. An ultrasound examination was said to be normal. They inquired whether there were ways to increase their confidence that the complement was unbalanced. Their reluctance to terminate the pregnancy was due to a 6‐year history of infertility. After extensive counselling, the couple elected repeat amniocentesis. Further cytogenetic analysis of repeat amniotic fluid cultures by G‐banding and R‐banding, molecular genetic analysis with highly polymorphic DNA probes, and quantitative flow cytometry were performed. Results agreed that an unbalanced fetal complement was present. Southern blot analysis with a 5p marker definitively demonstrated a lack of maternal 5p material in the fetus, and in situ hybridization showed a 5q marker at either end of the recombinant chromosome. Flow cytometry was consistent with this interpretation, Because of the advanced gestational age, the parents elected to terminate based on cytogenetic results of the second amniocentesis, rather than to wait another 1–2 weeks for results of other methods. Although not determinative of this pregnancy outcome, this correspondence provides reassurance that, in cases when banding analysis may be more difficult or inconclusive, other methods are accurate supplements to classical cytogenetics.
Interstitial 7q deletion [46,XX,del(7)(pter → q21.1::q22 → qter)] and the location of genes for β‐glucuronidase and cystic fibrosis
Authors: Chitayat David , McGillivray Barbara C. , Wood Steven , Kalousek Dagmar K. , Langlois Sylvie , Applegarth Derek A. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for the enzyme .β‐glucuronidase and the DNA probes around the cystic fibrosis gene—pJ3.11 and metH. Both the β‐glucuronidase gene and the DNA probes pJ3.11 and metH were found in 2 copies in our patient, indicating that neither locus lies in the deleted segment.
Spontaneous expression of fra(10)(q25) in bone marrow from a patient with agranulocytosis
Authors: Haney Susan M. , Butler Fred O. , Heerema Nyla A. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on the spontaneous expression of fra(10)(q25) in bone marrow from a patient with agranulocytosis. Expression of this fragile site in both bone marrow and leukocytes was enhanced by bromodeoxyuridine (BrdU), while folic‐acid‐deficient medium enhanced the expression of fra(10)(q25) only in leukocytes. Variability in the expression of fra(l0)(q25) in bone marrow and leukocyte cultures over an 18‐month period was also found.
Laterality defects in conjoined twins: Implications for normal asymmetry in human embryogenesis
Authors: Cunniff Christopher , Jones Kenneth Lyons , Jones Marilyn C. , Saunders Brian , Shepard Thomas , Benirschke Kurt , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe evaluated six pairs of conjoined twins: four pairs were dicephalus, and two were of the ischiopagus type. In three of the four dicephalus pairs, the right twin had an abnormality of laterality that included a right aortic arch, reversed great vessel orientation, bilateral right‐sided isomerism of the lungs, asplenia, and situs inversus of the viscera. The left twin had normal great vessel orientation and situs solitus in each case. The finding that was unique in these three dicephalus twin pairs was their fused hearts, which were similar in orientation and configuration. The fourth dicephalus twin pair had one normally rotated heart, which was located in the midline and had normally placed chambers and great vessels. Each twin of this pair had normal visceral situs.In the two pairs of ischiopagus twins, each pair had two separate hearts, with normal cardiac structure and great vessel relationships. The viscera expressed normal laterality. Documentation of a defect in laterality in the right twin in three conjoined twin pairs with fusion of the hearts, combined with the presence of normal laterality in three pairs without cardiac fusion, has implications regarding the mechanisms leading to laterality of the human embryo. We suggest that rotation of the heart initiates the embryo's process of lateralization and that the laterality defects of the viscera seen in the right twin are a result of their abnormal cardiac rotation.
Identification of carriers of Duchenne muscular dystrophy: Value of molecular analysis
Authors: LeRoy Bonnie S. , Uhrhammer Nancy A. , Steere Karyn J. , Boehm Corinne D. , King Richard A. , Rich Stephen S. , Williams Preston P. , Smith Stephen A. , de Martinville Bérengère , Reynolds James F. 
Published: September 2005

AbstractCurrently, molecular methods are the most accurate diagnostic tools for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD). This report illustrates the value of molecular diagnosis as opposed to previous diagnostic methods, the need for frequent re‐evaluations as new methodologies develop, and the necessity for in‐depth genetic counseling. In Family 1, the proposita was predicted to be a carrier by an indirect assay (abnormal in vitro muscle ribosomal protein synthesis). DNA analysis using restriction fragment length polymorphisms (RFLPs) indicated that she was not a carrier. She gave birth to a predicted non‐affected male, who inherited the gene in question. In Family 2 the proposita, an obligate carrier, was initially evaluated by RFLP analysis. Two pregnancies were monitored by first trimester chorionic villous sampling. Re‐evaluation indicated that all affected individuals, including one of the embryos, carried a deletion of the dystrophin gene. The identification of an RFLP within the region containing the deletion allowed unambiguous determination of the carrier status of all individuals.
Origin of 46,XY/46,XY,r(19) mosaicism
Authors: Yung Jar‐Fee , Sobel Daniel B. , Hoo Joe J. 
Published: September 2005

AbstractWe report on a case of 46,XY/46,XY,r(19) mosaicism. The patient shows minimal clinical abnormality and the terminal deletions prerequisite for the ring formation are not microscopically discernible. The origin of the mosaicism is discussed. Firstly, the mosaicism may represent chimerism with a prezygotic origin of the ring chromosome; secondly, the ring chromosome could have arisen postzygotically; and thirdly, the ring could have been of a prezygotic origin with the apparently normal cells actually containing reopened rings. The consequences of these hypothesis on genetic counselling are discussed.
Two siblings with tel Hashomer camptodactyly and mitral valve prolapse
Authors: Toriello Helga V. , Higgins James V. , Malvitz Thomas , Waterman Donald F. 
Published: September 2005

AbstractA brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.
Fanconi anemia in black African children
Authors: Macdougall Lorna G. , Greeff Michael C. , Rosendorff Jennifer , Bernstein Renee 
Published: September 2005

AbstractFanconi anemia (FA) has rarely been reported in black children either in the United States or Africa. This report describes 25 black African children with FA seen in Johannesburg over an 11‐year period. The prevalence of homozygotes was estimated to be 1:476,000. Clinical manifestations, mean age at diagnosis, and hematologic and chromosome abnormalities were similar to those described in other ethnic groups. Response to androgens was poor and most patients required regular transfusions. Seventeen (68%) of the children died during the 11‐year observation period. Leukemia was the terminal event in 2 patients. The mean age at death was 9.8 years and the mean time between diagnosis and death 2.3 years. The poor response to androgens, high mortality, and early mean age at death would favor consideration of early bone marrow transplantation in these children.
Hutchinson‐Gilford progeria: Familial occurrence
Authors: Parkash H. , Sidhu S. S. , Raghavan R. , Deshmukh R. N. 
Published: September 2005

AbstractWe report on 2 brothers with Hutchinson‐Gil‐ford progeria. These patients have 2 unusual findings, i.e., marked resorption of the mandible along with loss of teeth in the elder sib and prolonged survival. Both sibs are still alive and active at the age of 32 and 24 years.
Apparent postnatal onset of some manifestations of the Wiedemann‐Beckwith syndrome
Authors: Chitayat David , Rothchild Avi , Ling Emily , Friedman J. M. , Couch Robert M. , Yong Siu‐Li , Baldwin Virginia J. , Hall Judith G. 
Published: September 2005

AbstractWe report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann‐Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one.The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.
Boomerang dysplasia
Authors: Winship I. , Cremin B. , Beighton P. 
Published: September 2005

AbstractBoomerang dysplasia is a recently delineated form of neonatally lethal dwarfism. A fourth case has been investigated and an increased range of phenotypic manifestations is documented in this article. So far all affected infants have been males and X‐linked recessive inheritance is possible. Diagnostic criteria for Boomerang dysplasia are outlined.
Chromosome evolution and high‐resolution analysis of leucocytes, bone marrow, and tumor cells of retinoblastoma patients
Authors: Lemieux Nicole , Richer Claude‐Lise 
Published: September 2005

AbstractHigh‐resolution cytogenetics were applied to leucocytes, bone marrow, and tumors of 8 reti‐noblastoma (Rb) patients in search of microdeletions or subtle rearrangements and in order to determine clonal evolution. Four of 9 tumors (Rb1, Rb6.1, Rb6.2, and Rb8) showed a deletion in the characteristic region on 13q while 2 others (Rb3 and Rb4) were hemizygous for chromosome 13 in approximately one‐third of the cells. Our study presents a particularly high incidence of chromosome 13 anomalies as compared to the previously published data. Furthermore, comparison of karyotypes of 3 significant cases (Rb1, Rb6, and Rb8) allows the reconstruction of the necessary steps in the evolution of retino‐blastoma. It also shows the need for a double mutation in tumor development, both in hereditary and non‐hereditary cases. High‐resolution chromosome analysis of retinoblas‐toma patients provides a rare opportunity to study the succession of events necessary for tumor development.
Fraser syndrome with renal agenesis in two consanguineous Turkish families
Authors: Francannet C. , Lefrançois P. , Dechelotte P. , Robert E. , Malpuech G. , Robert J. M. 
Published: September 2005

AbstractWe report on 3 girls and one boy from 2 sib‐ships with Fraser syndrome and renal agenesis. They were born to consanguineous parents, which supports an autosomal recessive mode of inheritance.
Bone dysplasias: The prenatal diagnostic challenge
Authors: Escobar Luis F. , Bixler David , Weaver David D. , Padilla Lillie‐Mae , Golichowski Alan 
Published: September 2005

AbstractThe prenatal diagnosis of bone dysplasias presents difficult challenges for the clinician involved in monitoring pregnancies. Such diagnoses highlight delicate ethical issues and may require difficult decision‐making when the differential diagnosis includes a lethal bone dysplasia. Despite the rapid technological advances in ultrasonography, the ability to make prenatal diagnoses within this group of disorders is limited by the restricted ultrasonographic capability to appreciate fully the detailed fetal anatomy. However, we perceive that a significant further limitation involves the lack of a systematic protocol to guide the clinician in the ultrasonographic evaluation of a fetus suspected of having a skeletal dysplasia.In an attempt to aid the clinician who is evaluating these suspected pregnancies, we report here 8 cases and propose a model protocol for the ultrasonographic diagnostic approach to fetal skeletal problems in utero.
Karyotype/phenotype controversy: Genetic and molecular implications of alternative hypotheses
Authors: Wilson Golder N. 
Published: September 2005

AbstractAlternative explanations for aneuploid phenotypes are evaluated according to clinical and experimental predictions. The additive hypothesis views the diverse manifestations of aneuploidy as the simple sum of individual gene dosage effects. The interactive hypothesis views aneuploid characteristics as network properties of genes within and outside the aneuploid segment. The importance and historical context of this debate are emphasized, and the 2 hypotheses are contrasted in terms of their experimental predictions and explanatory power. In particular, the concepts of colinearity and continuity derived from single gene action are explicitly examined in human aneuploidy with the conclusion they are likely to be false assumptions.
Ambiguous genitalia in the Proteus syndrome
Authors: Frydman Moshe , Kauschansky Arieh , Varsano Itzhak 
Published: September 2005

AbstractAn 11‐year‐old girl was followed up since birth because of hemihypertrophy of the left leg and thigh, multiple pigmented nevi and subcutaneous tumors typical of the Proteus syndrome. Because of clitoromegaly and scrotal‐like hypertrophy of the labia majora, she had an endocrine evaluation the results of which were normal. The findings are thought to represent local genital hypertrophy. Ambiguous genitalia have to be added to the phenotype of the Proteus syndrome.
Trisomy 13 syndrome and neural tube defects
Authors: Rodríguez José Ignacio , García Marcial , Morales Carmen , Morillo Ana , Delicado Alicia 
Published: September 2005

AbstractAbnormalities of the CNS, such as arhinen‐cephaly or holoprosencephaly, are common findings in trisomy 13 syndrome. However, neural tube defects (NTDs) are rarely reported. A review of 267 patients in the literature on reported CNS developmental defects in trisomy 13 syndrome showed only 6 patients with lumbosacral NTDs. No case of en‐cephalocele or anencephaly was found. We report on 3 patients with spina bifida from the records of 34 necropsies of karyotyped tri‐somy 13 syndrome, which were found among 403, 710 births.
The Cyclopes in Odysseus' Apologos
Authors: Bazopoulou‐Kyrkanidou Euterpe 
Published: September 2005

AbstractIn Homer's Odyssey, Odysseus narrates the lifestyle and behavior of the Cyclopes. They were no larger than life‐sized figures and lived in a land rich in natural products but cultivated nothing. They dwelled in caves, and their sociopolitical system was based on the family unit. There were no interfamilial congregations, institutions, or laws. They had no ships, nor were there any craftsmen who might build ships to visit the cities of other men. Perhaps the land of the Cyclopes described in Homer's Odyssey may have represented a place somewhat like the hospitals or islands which were used to isolate patients with leprosy. Otherwise, we can follow Thucydides' opinion: let it suffice, as the story has been told by poets, and each man has formed his own opinion about them. © 2005 Wiley‐Liss, Inc.