bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal detection of cyclopia associated with interstitial deletion of 2p
Authors: Grundy Howard O. , Niemeyer Pam , Rupani Mahendra K. , Ward Veronica F. , Wassman E. Robert 
Published: June 2005

AbstractWe report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.
Anorectal malformations and Down syndrome
Authors: Zlotogora J. , Abu‐Dalu K. , Lernau O. , Sagi M. , Voss R. , Cohen T. 
Published: June 2005

AbstractDuring 1980 to 1986, 89 children with Down syndrome and 42 with imperforate anus were diagnosed among 64,870 liveborn infants in the Jewish population of Jerusalem. Two of the children had both Down syndrome and imperforate anus. This indicates a high incidence of imperforate anus among children with Down syndrome (2.2%).
Expanded phenotype and ethnicity in Setleis syndrome
Authors: Clark Robin Dawn , Golabi Mahin , Lacassie Yves , Hall Bryan , Seto Susan 
Published: June 2005

AbstractSetleis syndrome, an autosomal recessive disorder characterized by “coarse” face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.
Esterase D assay in Brazilian retinoblastoma families
Authors: Costanzi Eugenia , da Silva‐Fernandes Maria E. , D'Almeida Vânia , Erwenne Clélia M. 
Published: June 2005

AbstractThe gene related to retinoblastoma (Rb gene) can be considered a model human tumor supressor gene and was assigned to band 13q14, together with the esterase D (ESD) gene. We studied the ESD activity and phenotype in 40 retinoblastoma patients, 50 unaffected relatives, and 85 nonrelated healthy control individuals. ESD activity from patients is significantly different from that of relatives and control individuals, but there was no significant difference between ESD activity from unaffected relatives and control individuals. Twelve and one‐half percent of patients and 4.2% of unaffected relatives with ESD1 phenotype showed a low ESD level. The results showed the importance of ESD studies in all retinoblastoma patients and their relatives.
Re‐evaluation of new X‐linked syndrome for evidence of CHARGE syndrome or association
Authors: Abruzzo Michael A. , Erickson Robert P. 
Published: June 2005

AbstractPreviously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. This family has been cited in several reports as an example of familial CHARGE syndrome. We do not think that the patients in this family have the Charge syndrome or association. Therefore, we decided to do a follow‐up study on this family to assess the subsequent development of the patients and to determine if they have the CHARGE syndrome. We conclude that our patients do not have familial CHARGE syndrome.
Hypothesis: Homozygosity in tourette syndrome
Authors: Comings David E. , Comings Brenda G. , Knell Ellen 
Published: June 2005

AbstractWe review evidence suggesting that many individuals with Tourette syndrome (TS) may be homozygous for a “Tourette syndrome” gene. This is based on experience with pedigrees on 1,200 TS families, comparison of the occurrence of tics or associated behaviors such as obsessive‐compulsive behavior, panic attacks, attention deficit hyperactivity disorder, and/or severe alcohol or drug abuse, on both the maternal and paternal side in 170 TS families compared to control families, biochemical studies of blood serotonin and tryptophan levels, and other evidence. These observations suggest the inheritance in TS may be best described as semi‐dominant, semi‐recessive. Some of the implications of this proposal are discussed.
Functional methionine synthase deficiency (cblE and cblG): Clinical and biochemical heterogeneity
Authors: Watkin David , Rosenblatt David S. 
Published: June 2005

AbstractFunctional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the first 2 years of life, but one patient came to medical attention at age 21 years with symptoms initially diagnosed as multiple sclerosis. Common findings among 11 patients (4 with cblE and 7 with cblG) have included megaloblastic anemia (all patients) and various neurological deficits including developmental retardation (10 patients), cerebral atrophy (8 patients), hypotonia (7 patients), EEG abnormalities (6 patients), and nystagmus (5 patients). Hypertonia, seizures, blindness, and ataxia were less frequent. All patients have responded to therapy with cobalamin with resolution of anemia and biochemical abnormalities; neurological deficits resolved more slowly and in some cases incompletely. Hydroxycobalamin has been more effective than cyanocobalamin. Fibroblasts from patients with cblE (5 patients) and cblG (6 patients) all showed decreased intracellular levels of methylcobalamin (MeCbl) and decreased incorporation of label from 5‐methyltetrahydrofolate into macromolecules, suggesting decreased activity of the MeCbl‐dependent enzyme methionine synthase. Methionine synthase specific activity in extracts of all cblE fibroblasts was normal or near‐normal under standard reducing conditions; synthase specific activity in extracts of 5 cblG patients was low but was high in a 6th patient measured in another laboratory. Thus, there is heterogeneity among patients with functional methionine synthase deficiency both in clinical presentation and in the results of biochemical studies of cultured cells.
Prenatal diagnosis of friedreich ataxia
Authors: Wallis J. , Shaw J. , Wilkes D. , Farrall M. , Williamson R. , Chamberlain S. , Skare J. C. , Milunsky A. 
Published: June 2005

AbstractFriedreich ataxia is a progressive neurodegenerative disorder affecting the peripheral and central nervous systems. One in 50,000 of the population are affected by this recessively inherited disorder, with onset usually before puberty. The recent localization of the disease locus to chromosome 9 has made it possible to provide genetic counselling to families with at least one affected child. Tight linkage of the disease mutation to an anonymous DNA marker MCT112 (D9S15) has been shown with a pairwise lod score of 36.1 at 0=0. We report here the first prenatal diagnosis in Friedreich ataxia. Using MCT112 and the confidence interval approach, we have calculated risks for a fully informative family with one affected sib.
Börjeson‐Forssman‐Lehmann syndrome: Clinical manifestations and gene localization to Xq26‐27
Authors: Turner Gillian , Gedeon Agi , Mulley John , Sutherland Grant , Rae John , Power Keith , Arthur Ian 
Published: June 2005

AbstractWe have studied 7 males in one family with mild/moderate intellectual handicap, long thick ears, deep‐set eyes, small testes, and post pubertal gynecomastia. The affected males and some of the heterozygous females also had tapering fingers and short, widely spaced flexed toes. The pedigree demonstrates X‐linked recessive inheritance. The clinical manifestations are similar to those described in the Börjeson‐Forssman‐Lehmann (BFL) syndrome but differ in the degree of mental handicap and the absence of “dwarfism” and microcephaly. This milder manifestation may represent either phenotypic or genotypic variation. DNA marker studies demonstrated linkage to theDXS86,DXS51, andF9 cluster at Xq26‐q27. The maximum lod score was 2.1 withDXS51, at θ = 0.0. Definite recombinants were observed betweenDXS10(at Xq26 but proximal toDXS86),DXS105(at Xq27 but distal toF9), andBFL. Thus, the regional localization forBFLis Xq26‐q27 betweenDXS10andDXS105.
Trisomy 22: No longer an enigma
Authors: Kukolich Mary K. , Kulharya Anita , Jalal S. M. , Drummond‐Borg Margaret 
Published: June 2005

AbstractWe describe a live‐born male with 47,XY, + 22. He had multiple congenital anomalies, severe growth retardation and psychomotor delay. Physical manifestations included broad nasal bridge, epicanthic folds, micrognathia, long philtrum, cleft palate, microcephaly with prominent occiput, apparently low‐set malformed ears, heart murmur, genital anomaly, clinodactyly of the fifth fingers, and a low total finger ridge count. He died just before his 3rd birthday. Chromosome analysis by multiple banding techniques based on lymphocyte and fibroblast cultures confirm that the boy had complete trisomy 22.
Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance
Authors: Kaplan Bernard S. , Gordon Isky , Pincott John , Barratt T. Martin 
Published: June 2005

AbstractAutosomal dominant (or possibly X‐linked) inheritance of familial hypoplastic glomerulocystic kidneys is described in a mother and son who both had stable, chronic renal failure, cystic kidneys by ultrasound examination, glomerular cysts as demonstrated histologically, and malformed renal calyces. There was no evidence of other congenital abnormalities apart from prognathism, small stature and pyloric stenosis. Hepatic fibrosis was not evident in a liver biopsy specimen. These findings add further confirmation to the existence of the syndrome of familial hypoplastic glomerulocystic kidney disease with dominant inheritance.
Type II collagen screening in the human chondrodysplasias
Authors: Horton William A. , Campbell Dianna , Machado Mirta A. , Chou Jean 
Published: June 2005

AbstractAbnormalities of type II collagen have been considered strong candidates for causing human chondrody splasias. We have employed peptide mapping to screen for several types of type II collagen abnormalities in cartilage samples from 66 patients with 20 separate disorders. Except for achondrogenesis type II (Langer‐Saldino) and spondyloepiphyseal dysplasia (SED) congenita in which abnormalities have been described and diastrophic dysplasia in which the changes were probably secondary, no abnormalities were detected. Within the limitations of the screening technique, the results combined with other data from the literature suggest that abnormalities of this molecule are not common causes of chondrody splasias outside of the achondrogenesis type II‐SED congenita family of disorders.
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
Authors: Hennekam R. C. M. , Geerdink R. A. , Hamel B. C. J. , Hennekam F. A. M. , Kraus P. , Rammeloo J. A. , Tillemans A. A. W. 
Published: June 2005

AbstractWe report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.
Dermatoglyphic analysis of autistic Basque children
Authors: Arrieta M. I. , Martinez B. , Criado B. , Simón A. , Salazar L. , Lostao C. M. 
Published: June 2005

AbstractWe have analyzed the digital and palmar dermatoglyphics in a sample of autistic children from the Basque Country. The results have been compared with those from a control sample having the same characteristics relative to the ethnic region. We found significant differences between the digital dermatoglyphics of autistic boys and control boys. Autistic children have a higher frequency of transitional radial loops and a lower frequency of dicentric whorls; also the total finger ridge count (TFRC) and radial count are lower in autistic individuals. There were no significant differences in the girls. In palmar dermatoglyphics, autistic girls have a lower frequency of radial loops in the hypothenar area, and the value of the “atd” angle is higher than in control girls. These differences were significant. The a‐b interdigital ridge count is significantly lower in autistic boys. Autistic children of both sexes have a higher frequency of aberrant palmar creases. The results obtained in the present study do not contradict the hypothesis that genetic factors may be important in autism of unknown cause.
Chromosome mosaicism in hypomelanosis of Ito
Authors: Ritter Catherine L. , Steele Mark W. , Wenger Sharon L. , Cohen Bernard A. 
Published: June 2005

AbstractOur finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this “syndrome.” Most patients have a variety of non‐dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non‐specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.
Neuropsychological dysfunction among affected heterozygous fragile X females
Authors: Grigsby James P. , Kemper Melinda B. , Hagerman Randi J. , Myers Carol S. 
Published: June 2005

AbstractFragile X (or Martin‐Bell) syndrome is an X‐linked disorder that often produces mental retardation in males, but usually affects heterozygous females to a lesser degree. Here we report the results of a brief neuropsychological examination of 20 heterozygous fra(x) girls and women and two control groups of 20 individuals each. One control group was composed of fra(x)‐negative mothers (obligate carriers) and sisters of male probands with fra(x) syndrome, whereas the other was composed of 14 head‐injured and six learning disabled women and girls. In addition to general intellectual impairment, several specific cognitive deficits were consistently found in individuals with the Martin‐Bell syndrome, suggesting focal neuropsychological dysfunction.Significant differences were noted between fra(x) individuals and controls on most cognitive and neuropsychological measures studied. Over one‐third of the fra(x) individuals demonstrated neuropsychological symptoms characteristic of the full developmental Gerstmann syndrome, whereas another third had three or four of the five signs of possible parietal lobe dysfunction. In our sample, there was an association between improved performance and increasing age. Differences among heterozygous individuals in number of focal symptoms may reflect some variability in the penetrance of the fra(x) gene, as well as in the functional organization of the brain.
The central nervous system in the Apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven 
Published: June 2005

AbstractIn this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the literature, 30 patients had malformations of the corpus callosum, the limbic structures, or both. Other frequent findings included megalencephaly (7 cases), gyral abnormalities (8 cases), encephalocele (4 cases), pyramidal tract abnormalities (2 cases), hypoplasia of cerebral white matter (4 cases), and heterotopic gray matter (2 cases). Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past. Psychometric evaluations, neurological findings, and neuropathologic reports from the literature are critically reviewed. It is clear that a significant number of patients with the Apert syndrome are mentally retarded. It is suggested that malformations of the central nervous system may be responsible for most cases.
Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter
Authors: Wardinsky Terrance D. , Weinberger Ed , Pagon Roberta A. , Clarren Sterling K. , Thuline Horace C. 
Published: June 2005

AbstractA patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3→qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Computed tomography (CT) and magnetic resonance imaging of this infant's brain demonstrated abnormality of the supratentorial white matter. This may represent either deficiency or delay in myelination or possibly a demyelination process. No abnormalities in white matter were described in seven of 33 previously reported patients whose brains were examined by ultrasound, CT, or autopsy.
Chromosome 6q deletions: A report of two additional cases and a review of the literature
Authors: McLeod D. R. , Fowlow S. B. , Robertson A. , Samcoe D. , Burgess I. , Hoo J. J. 
Published: June 2005

AbstractHere we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter → q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter → q23::q25 → qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.
Neonatal progeroid syndrome: More than one disease?
Authors: Hagadorn James I. , Wilson William G. , Hogge W. Allen , Callicott Joseph H. , Beale Ernest F. 
Published: June 2005

AbstractWe report on an infant with the neonatal progeroid syndrome whose clinical course and autopsy findings indicate that this may be a heterogeneous phenotype. The infant had intrauterine growth retardation, absence of subcutaneous fat, and a wizened, aged face, all apparently characteristic of the condition, but also had congenital heart defects and urinary reflux not reported in previous cases. An elevated maternal serum alpha fetoprotein was noted at 16 weeks of gestation and lateonset growth retardation appeared after 31 weeks. Autopsy findings showed normal cerebral myelination, in contrast to findings of sudanophilic leukodystrophy in the one patient with the syndrome previously examined at autopsy. These findings suggest that the neonatal progeroid syndrome may be a phenotype and have more than one cause.
Facial morphometrics in the identification of gene carriers of X‐linked hypohidrotic ectodermal dysplasia
Authors: Saksena Sudha Srikrishen , Bixler David 
Published: June 2005

AbstractRoentgenographic measurements and morphometric analysis were employed in the investigation of contrasting patterns of craniofacial variation between normal individuals and those affected by X‐linked hypohidrotic ectodermal dysplasia (HED). The research objective was to identify and describe the facial characteristics of heterozygous gene carriers who show minor expression of the disorder.In this study of 13 HED families with 16 affected males, 12 carriers, and 12 normal individuals, affected individuals had at least 3 of the following 4 clinical signs and symptoms: a) hypodontia, b) hypohidrosis, c) hypotrichosis, and d) clinically distinct facial physiognomy. By contrast, the gene carriers manifested only one or 2 or none of the 4 clinical manifestations.In a preliminary comparison of gene carriers vs. normal individuals, we have generated 2 discriminant functions (each based on 3 facial measurements taken either from the lateral or frontal cephalograms). These 2 functions correctly diagnose 100% of the gene carriers and normal HED relatives.Facial anomalies characteristic of the gene carriers were 1) abnormally narrow and short maxillary width and palatal depth dimensions; 2) very small and retrusive malar and maxillary regions; 3) markedly reduced lower facial depth, height and width dimensions; 4) small head height, prominent forehead, and high‐set orbits; 5) a generalized, symmetric reduction of the whole craniofacial complex.
Clinical/Epidemiological analysis of malformations
Authors: Martinez‐Frías M. L. , Frías J. L. , Salvador J. 
Published: June 2005

AbstractTo investigate the heterogeneity of congenital malformations, we analyzed the distribution of 14 selected anomalies among 11,421 children with isolated defects and with different patterns of multiple congenital anomalies (MCA). Our study showed a marked variability in the distribution of each of these malformations. For example, although anophthalmia/microphthalmia, cleft palate, and limb deficiency were observed in all etiological categories of syndromes, no case with anencephaly was identified among the 1,244 children with different syndromes. Diaphragmatic hernia, esophageal atresia ± tracheoesophageal fistula, and gastroschisis were not found in any monogenic syndrome in this sample. These observations may be of help to the clinician in the evaluation of individual children with MCA.
A de novo X; 3 translocation in Rett syndrome
Authors: Zoghbi H. Y. , Ledbetter D. H. , Schultz R. , Percy A. K. , Glaze D. G. 
Published: June 2005

AbstractRett syndrome is a neurodegenerative disorder that occurs exclusively in females. The syndrome is sporadic in most cases with the exception of a few familial cases with an inheritance pattern through maternal lines. These observations raised the possibility that Rett syndrome may be due to an X‐linked dominant mutation which is lethal in the male. To evaluate this hypothesis, we have systematically performed high‐resolution chromosome analysis on 28 patients with Rett syndrome searching for deletions and/or translocations. In one patient, a de novo balanced translocation was observed with the chromosome constitution of 46, X, t (X;3) (p22.11;q13.31). This finding supports the hypothesis of an X‐linked dominant mutation and suggests that the Rett gene might map to distal Xp21 or proximal Xp22.
Transabdominal and transcervical chorionic villus sampling: Efficiency and risk evaluation of 2,411 cases
Authors: Brambati Bruno , Lanzani Alessandro , Tului Lucia 
Published: June 2005

AbstractEfficacy and risks of transcervical and trans‐abdominal chorionic villus sampling (CVS) methods were evaluated in 1,501 and 910 cases, respectively. We reported a success rate of more than 99% for both sampling procedures and obtained an adequate amount of chorionic tissue in more than 96% of cases on the first attempt. However, the transcervical method was more difficult to learn and was contraindicated by a higher number of unfavorable clinical and anatomical conditions. Transabdominal sampling proved to be a less time‐consuming procedure and could also be used after the 12th week of gestation.Bleeding/spotting (10.1%) and uterine cramping (2.5%) were the most frequent early complications following transcervical and transabdominal sampling, respectively. Uterine infection was rare (0.13%) and was reported only after cervical aspiration. No significant effects on fetal growth, preterm delivery, placenta disorders, congenital defects, and perinatal mortality following transcervical and transabdominal sampling, and for both procedures total fetal loss rate was less than 4%.This experience suggests that transabdominal needle sampling is the method of choice; however, transcervical aspiration appears more likely to succeed in a limited number of well‐defined conditions.