bluuebunny/crossref_metadata_2025_split huggingface dataset:
Blepharophimosis sequence and de novo balanced autosomal translocation [46, XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23
Authors: Fukushima Yoshimitsu , Wakui Keiko , Nishida Toshiro , Ueoka Yasuo 
Published: June 2005

AbstractWe report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and 4p15.2 [46, XY,t(3;4)(q23;p15.2)de novo]. Possible assignment of this autosomal dominant disorder is discussed. A 3q23 band is a more preferable gene locus of the blepharophi mosis sequence, based on the comparison of clinical manifestations between 4p‐ and 3q‐syndromes.
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity
Authors: Trifiro Mark , Prior R. Lynn , Sabbaghian Nelly , Pinsky Leonard , Kaufman Morris , Nylen Edward G. , Belsham Denise D. , Greenberg Cheryl R. , Wrogemann Klaus 
Published: June 2005

AbstractWe have discovered in the X‐linked androgen receptor gene a single nucleotide substitution that is the putative cause of complete androgen insensitivity (resistance) in a family with affected individuals in 2 generations. Earlier studies on the family indicated cosegregation of mutant phenotype and the RFLPs at the loci DXS1 and DXYS1. The mutation is an adenine‐to‐thymine transversion in exon 8 that changes the sense of codon 882 from lysine to an amber (UAG) translation termination signal. The substitution creates a recognition sequence for the restriction endonuclease MaeI: this permits ready recognition of hemizygotes and heterozygotes after amplification of genomic exon 8 by the polymerase chain reaction. The mutation predicts the synthesis of a truncated receptor that lacks 36 amino acids at the carboxy terminus of its 252‐amino acids androgen‐binding domain. The cultured genital skin fibroblasts of the one affected patient examined have normal levels of androgen receptor mRNA, but negligible androgen‐receptor binding activity. These results accord with a variety of data from spontaneous and artificial mutations indicating that all portions of the steroid binding domain contribute to normal steroid binding by a steroid receptor.
Syndrome of mental retardation and distal arthrogryposis in sibs
Authors: Chitayat David , Hodgkinson Kathy A. , Blaichman Shirley , Chen Moy‐Fong , Watters Gordon V. , Khalife Samir , Hall Judith G. 
Published: June 2005

AbstractTwo sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.
Molecular study of the Prader‐Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients
Authors: Hamabe Jun‐Ichi , Fukushima Yoshimitsu , Harada Naoki , Abe Kyohko , Matsuo Nobutake , Nagai Toshiro , Yoshioka Akira , Tonoki Hidefumi , Tsukino Ryuichi , Niikawa Norio 
Published: June 2005

AbstractDeletion and RFLP studies with 5 cloned DNA markers localized at 15q11.2 were performed in 50 patients with the Prader–Willi syndrome (PWS). A one‐copy density (deletion) for at least one of 4 loci, D15S9, D15S11, D15S10, D15S12, was detected in 32 (64%) of the 50 patients; deletions of each of the 4 loci were found in 29, 30, 29, and 28 patients, respectively. Three patients showed 4 or more copy density for D15S12 locus, in addition to deletions. The remaining 18 patients showed two‐copy densities for each of the 4 loci. A common site of rearrangements among our 32 patients as well as the reported patients seemed to be confined to a segment between D15S9 and D15S11, suggesting the putative PWS gene locus in this segment. Of 6 patients who have cytologic deletions but did not show any molecular deletions, 3 have normal size of hands and feet, and 4 have normally pigmented skin and hair. The normal pigmentation was also observed in 3 patients who had small molecular deletions in the examined 5‐locus segment. These observations may support the conception of contiguous gene syndrome. RFLP analysis demonstrated maternal uniparental isodisomy of chromosomes 15 in both a patient with 45,t(15q;15q) and a karyotypically normal patient. Based on the results of the present study, a new model is proposed to explain the occurrence of PWS with a variety of chromosome abnormalities, including partial monosomy, disomy, trisomy, and/or tetrasomy for 15q11.2. The normal development may require an even or more “number ratio” of paternally derived allele(s) to maternally derived allele(s) of the gene(s) localized at 15q11.2, and a disturbance of the ratio would lead to the PWS phenotype.
DNA deletion and its parental origin in Angelman syndrome patients
Authors: Hamabe Jun‐Ichi , Kuroki Yoshikazu , Imaizumi Kiyoshi , Sugimoto Tateo , Fukushima Yoshimitsu , Yamaguchi Atsuko , Izumikawa Yoshinori , Niikawa Norio 
Published: June 2005

AbstractDNA deletion studies using 5 DNA markers localized at 15q11–q12 were performed in 14 Angelman syndrome (AS) patients (9 sporadic and 5 familial cases). A one‐copy density for one or more of the 5 loci was detected in 8 (57.1%) of the 14 patients. A deletion of only the D15S11 locus was detected in one sporadic patient, that involving only the D15S10 in 3 familial patients (sibs in a family), that spanning 3 loci (D15S11, D15S10, D15S12) in one sporadic patient, and that spanning 4 loci (D15S9, D15S11, D15S10, D15S12) in the other 3 sporadic patients. The deletion common to our patients as well as to the reported patients may be confined to a segment between D15S11 and D15S10, if the 5 loci are ordered as cen‐D15S18‐(D15S9‐D15S11‐D15S10)‐D15S12‐qter. This site overlaps but is more distal to the common deletion site in Prader‐Willi syndrome (PWS) patients. In the family of the 3 sibs, both of the phenotypically normal mother and maternal grandfather also have deletions of the D15S10 locus. These results were consistent with the genomic imprinting hypothesis for the occurrence of AS, i.e., the lack of a maternally derived locus leads to AS, but may not support a model that AS is the alternative phenotype of PWS at the identical locus.
Costello syndrome
Authors: Der Kaloustian Vazken M. , Moroz Brenda , McIntosh Nathalie , Watters A. Kevin , Blaichman Shirley 
Published: June 2005

AbstractIn 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.
Monozygotic twins discordant for Ullrich‐Turner syndrome
Authors: Kaplowitz Paul B. , Bodurtha Joann , Brown Judith , Spence J. Edward 
Published: June 2005

AbstractWe describe 9‐year‐old twin girls who were thought to be monozygotic but who differed greatly in physical appearance and growth pattern. One twin had Ullrich‐Turner syndrome (UTS),45,X/46,XX mosaicism in peripheral blood, and only 45,X cells in skin fibroblasts. The phenotypically normal twin also had 45,X/46,XX mosaicism in blood but only 46,XX cells in cultured fibroblasts. Analysis of DNA marker patterns in blood lymphocytes and in skin fibroblasts confirmed monozygosity with a probability of 99.97%. This case is compared with other reported cases of discordance for UTS in twins. It is concluded that essentially all of the differences between the two twins can be explained by loss of an X chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event. The presence of mosaicism in the peripheral blood of both twins is presumably due to anastomoses between the placentae resulting in a mixture of the two cell populations in the hematopoietic tissue.
Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
Authors: Morton D. Holmes , Bennett Michael J. , Seargeant Lorne E. , Nichter Charles A. , Kelley Richard I. 
Published: June 2005

AbstractWe have diagnosed type I glutaric aciduria (GA‐I) in 14 children from 7 Old Order Amish families in Lancaster County, Pennsylvania. An otherwise rare disorder, GA‐I appears to be a common cause of acute encephalopathy and cerebral palsy among the Amish. The natural history of the disease, which was previously unrecognized in this population, is remarkably variable and ranges from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy to normal adult. Ten patients first manifested the disease between 3 and 18 months at the time of an acute infectious illness. Four of these children died in early childhood, also during acute illnesses. However, there has been little progression of the neurological disease after age 5 years in the surviving children and intellect usually has been preserved, even in children with severe spastic paralysis. When well, patients have plasma glutaric acid concentrations ranging from 4.8 to 14.2 m̈mol/liter (nl 0‐5.6 m̈mol/liter) and urinary glutaric acid concentrations from 12.5 to 196 mg/g creatinine (nl 0.5–8.4 mg/g creatinine). We have found that GA‐I can be diagnosed in the Amish by measurement of urinary glutaric acid concentrations using isotope‐dilution gas chromatography/mass spectrometry, whereas the diagnosis can easily be missed by routine urine organic acid gas chromatography. Based on our observations about the natural history of GA‐I in the Amish, we anticipate that, with early diagnosis afforded by GC/MS screening of individuals at risk, the combination of restriction of dietary protein and limitation of protein catabolism, dehydration, and acidosis during illnesses will prevent the onset or progression of neurological disease in Amish patients with this variant of GA‐I.
Oto‐palatal‐digital syndrome type II with X‐linked cerebellar hypoplasia/hydrocephalus
Authors: Stratton Robert F. , Bluestone Daniel L. 
Published: June 2005

AbstractWe describe an infant with clinically apparent oto‐palatal‐digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X‐linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. We suggest that these 2 entities may be located near one another on the X chromosome, and that both loci are affected in this family.
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X‐linked ichthyosis due to steroid sulfatase deficiency
Authors: Ballabio A. , Zollo M. , Carrozzo R. , Caiulo A. , Zuffardi O. , Cascioli C. F. , Viggiano D. , Strisciuglio P. 
Published: June 2005

AbstractWe observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another example of a contiguous gene syndrome in which the co‐deletion of adjacent genes on a chromosome is responsible for a complex phenotype.
Cognitive and motor skills in achondroplastic infants: Neurologic and respiratory correlates
Authors: Hecht Jacqueline T. , Thompson Nora M. , Weir Tempa , Patchell Larry , Horton William A. 
Published: June 2005

AbstractThirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen magnum measurements were correlated with respiratory dysfunction, abnormal so‐matosensory evoked potentials, and delayed motor development. Abnormal polysomno‐gram outcome was associated with reduced mental capacity. In light of the reported increased frequency of respiratory dysfunction in achondroplasia, these findings warrant careful attention and further study.
Diagnostic hand anomalies in Smith–Magenis syndrome: Four new patients with del (17)(p11.2p11.2)
Authors: Kondo Ikuko , Matsuura Shinya , Kuwajima Katsuko , Tokashiki Midori , Izumikawa Yoshinori , Naritomi Kenji , Niikawa Norio , Kajii Tadashi 
Published: June 2005

AbstractWe report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith–Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The finger‐pads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.
Analysis of neocortex in three males with the fragile X syndrome
Authors: Hinton V. J. , Brown W. T. , Wisniewski K. , Rudelli R. D. 
Published: June 2005

AbstractFragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al., Acta Neuropathologica 67:289–295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra‐layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II–VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retardation.
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the coffin‐siris syndrome
Authors: Rabe Petra , Haverkamp F. , Emons D. , Rosskamp R. , Zerres K. , Passarge E. 
Published: June 2005

AbstractWe report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin–Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.
Angular homeostasis VIII. Pursuit of a slowly moving target in a plane: Relevance to lateralization in cardiovascular ontogeny
Authors: Murphy Edmond A. , Rhee Sonia , Pyeritz Reed E. , Berger Kenneth R. 
Published: June 2005

AbstractWe explore the pursuit in a plane of a target moving at constant slow speed in a straight line. Two models of the pursuit are given. In the continuous case, the pursuer is moving at constant speed and is subject to proportionate angular homeostasis with correction constant b. In the discrete version movement occurs at a constant speed in a sequence of straight line segments of constant length (called the step size, s) the end of the segments being called the vertices. The pattern considered is not the absolute position of the pursuer, but its distance and orientation relative to the target. Both the transients and the asymptotic orbit are addressed. A key quantity is r, the speed of the target expressed as a fraction of that of the pursuer. If the speed of the pursuer is defined as unity, r is also the ratio of the speeds. There exists a critical speed fraction, R(b, s), a function of b and s, that defines what the term slow designates. R(b,s), which has to be found numerically, has the following property. For r < R(b, s), the asymptotic path is a simple closed curve. In the discrete case the vertices converge to a simple closed curve. The larger r, the more the path (or in the discrete analogue its set of vertices) departs from a circle, and the more eccentric the target is with respect to it. Interest centers on two issues. First we address the transient patterns of the path, notably whether or not the sense of any particular path (clockwise or counterclockwise) is the same throughout, or changes at some stage. These studies have a bearing on ontogenetic lateralization of the viscera; its relationship to the classification of dextrocardia is addressed. Second, we considor the asymptotic form of the path and its relationship to the parameters. The critical values of R (b, s) are extensively explored.
Gardner syndrome: Study and follow‐up of a family
Authors: Kratzer Guy L. , Kasumi Asao , Krush Anne J. 
Published: June 2005

AbstractA study is in progress of a family (Family P) with Gardner syndrome (familial adenomatous polyposis with extraintestinal manifestations—FAPG). Occult bone lesions of the jaws and ocular fundus lesions were found in a number of affected and at‐risk relatives. In some, these “markers” were found early in life before the appearance of colonic polyps. Family P is remarkable for differences in expression of the gene manifested by differences in the age‐at‐onset of polyps of the colon, in number and size of polyps, and in occurrence of desmoids. These differences may explain why some at‐risk relatives wisely followed medical surveillance plans while others, who lacked symptoms, failed to do so. Others without medical guidance undertook their own independent “treatment.”As knowledge about extracolonic lesions has increased and surgical treatment for FAPG improved from the time the first affected member of Family P received her diagnosis in 1953, the outlook for survival has also improved. Family communication and that among professionals treating families with FAPG may be improved as worldwide Polyposis Registries increase in number. The risk of postsurgical extraintestinal complications is reason enough to urge life‐long medical surveillance for all at‐risk relatives.
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies
Authors: Kapur S. , Toriello H. V. 
Published: June 2005

AbstractWe report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.
Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome
Authors: Temtamy Samia A. , Sinbawy Abdel Hamid H. 
Published: June 2005

AbstractWe have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis, mental retardation, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported entity. POSSUM lists 84 syndromes with any of the above 3 main traits. Two disorders with cataract and mental retardation, Martsolf syndrome and Mollica–Pavone–Anterer syndrome, have overlapping manifestations and therefore are particularly differentiated from our cases. We suggest that the association of congenital cataract, hypertrichosis, and mental retardation observed in this report represents a new autosomal recessive syndrome.
Problems in diagnosis and delineation of inherited disorders in highly inbred populations
Authors: Zlotogora Joel 
Published: June 2005

AbstractTwo families were chosen as examples of the problems that may arise in the identification of inherited disorders in populations in which the rate of consanguineous marriages is high. In the first family, mentally retarded children of both sexes were born to 4 sisters married to close relative, and the possibility of an autosomal recessive disease was raised. The diagnosis of an X‐linked disease, Martin Bell Syndrome, was made after the results of the chromosome analysis were at hand. In inbred communities, individuals affected with X‐linked diseases are often born to parents who are related.In the second family two different autosomal recessive disorders were diagnosed among the children of a couple originating from a very inbred community. One of the children was affected with both disorders. The finding of two sibs with different symptoms may suggest that they have the same syndrome, and the differences in manifestations represent variability. The possibility that there may be more than one common abnormal gene in very inbred communities must be kept in mind, in particular when one is dealing with syndromes in which the diagnosis is based on clinical symptoms only. Another problem is that when the child has a complex unknown syndrome, the possibility that the child is affected simultaneously with 2 different genetic disorders should be raised.
Double vagina, cardiac, pulmonary, and other genital malformations with 46, XY karyotype
Authors: Meacham Lillian R. , Winn Kevin J. , Culler Floyd L. , Parks John S. 
Published: June 2005

AbstractWe have studied two unrelated genetic males with a novel constellation of genital, cardiac, and pulmonary malformations. The genital abnormalities consisted of a true double vagina, retention of Müllerian structures, and undervirilization of the external genitalia. Both infants had complex cyanotic congenital heart defects, hypoplastic right lungs, anomalous pulmonary venous return, and abnormalities of the diaphragm. One patient had rhabdomyomatous dysplasia of the lungs. The cause of this malformation pattern is unknown. There was no family history of similar defects, no consanguinity, no known exposure to teratogens, and no chromsome abnormality.The retention of Müllerian structures and undervirilization of male genitalia in these cases could be the result of failure in production of adequate amounts of testosterone and Müllerian inhibitory factor at appropriate times in gestation. Because the developing human vagina is at no stage a duplicate structure, a double vagina cannot be the result of arrested genital differentiation. The unusual occurrence of a true double vagina should lead to careful pulmonary and cardiac evaluation.
Congenital cataracts in mother, sister, and son of a patient with Hallermann‐Streiff syndrome: Coincidence or clue?
Authors: Jo Harrod Mary , Friedman Jan M. 
Published: June 2005

AbstractThe son of a patient with Hallermann‐Streiff Syndrome (HSS) was found to have congenital cataracts, but no other findings of the syndrome. Similar findings were reported in the patient's mother and sister. The significance of this observation is uncertain.