bluuebunny/crossref_metadata_2025_split huggingface dataset:
Penetrance of Fra(X) gene: Influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male
Authors: Smits Arie P. T. , van Oost Bernard A. , de Haan Anton F. J. , Hamel Ben C. J. , Dreesen Jos C. F. M. , Smeets Dominique F. C. M. 
Published: June 2005

AbstractPrevious studies have indicated that the fragile X [fra(X)] gene does not show full penetrance (mental impairment) in carrier females or “carrier” males. The phenomenon of non‐expressing carrier males distinguishes the fra(X) syndrome from all other known X‐linked disorders. Moreover, penetrance of the fra(X) gene apparently does not show random distribution within fra(X) families, but seems to be reduced in sibs of normal transmitting males (NTM's). The availability of many large multigeneration fra(X) families, studied by cytogenetic and DNA analyses, enabled us to refine the estimates of the penetrance. From our data we conclude that the penetrance in daughters of carrier females is determined by the mental status of the mother. In sons of carrier females, the observed penetrance appears to be influenced by the grandparental origin of the gene as well as by the mental status of the mother. However, in contrast with the average penetrance, we observed a strongly reduced penetrance of the fra(X) gene in brothers (14%) and sisters (21%) of NTM's. These findings have profound implications for genetic counseling.
Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28
Authors: Macias Vincent R. , Day Donald W. , King Teresa E. , Wilson Golder N. 
Published: June 2005

AbstractWe describe a 5‐generation Hispanic family with 13 males and 1 female affected with MASA syndrome. The proposita, a 17‐year‐old female, and her affected male relatives shared many of the cognate manifestations–mental retardation (14/14), aphasia or delayed speech (13/13), shuffling gait (8/13), adduction of thumbs (14/14)–as well as scoliosis (2/13) and increased deep tendon reflexes in the lower extremities (10/13). Southern analysis with the polymorphic DNA probes DXS14 (Xp11), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.
New X‐linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
Authors: Proud Virginia K. , Levine Clive , Carpenter Nancy J. 
Published: June 2005

AbstractWe report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X‐linked inheritance with variable expression in females. These findings are inconsistent with the well‐described X‐linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin‐Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females.In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X‐linked probes suggests linkage with a LOD score of 1.26 at θ=0 to a region between p 11.3 and p 21.3.
New X‐linked syndrome with apraxia, ataxia, and mental deficiency: Clinical, cytogenetic and neuropsychological studies in two Danish families
Authors: Tranebjærg Lisbeth , Lou Hans , Andresen Jente 
Published: June 2005

AbstractIn 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X‐linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non‐progressive. Additional findings in 2 males were congenital “club‐feet” and generalized seizures. The affected males were 13‐62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X‐linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.
Incidence and associations of single umbilical artery in prenatally diagnosed malformed, midtrimester fetuses: A review of 62 cases
Authors: Csécsei Károly , Kovács Tamáa , Hinchliffe Stephen A. , Papp Zoltán 
Published: June 2005

AbstractThe absence of one umbilical artery (SUA) is the most common malformation of the umbilical cord. It may accompany other abnormalities or occur as an isolated defect. We examined 885 fetuses, terminated following the prenatal diagnosis of serious or lethal malformations between April 1977 and March 1989, for the presence of SUA. We found 62 cases of SUA. This represents an incidence of 7.01% (62/885). The most common abnormalities found in association with SUA were: (1) multiple malformations (8/11 cases, SUA incidence = 72.7%), (2) ADAM complex (7/14 cases, SUA incidence = 50.%), (3) multicystic renal dysplasia (5/20 cases, SUA incidence = 25.%), and (4) Potter sequence (5/21 cases, SUA incidence = 23.8%). These associations have not been documented previously. In 6 fetuses the Meckel syndrome was diagnosed, and SUA was present in 2 of these. Therefore, SUA may represent an additional anomaly in Meckel syndrome that has not been reported previously. © 1992 Wiley‐Liss, Inc.
Interstitial deletion of chromosome 16q: 16q22 is critical for 16q‐ syndrome
Authors: Fujiwara Masataka , Yoshimoto Toru , Morita Yasuyuki , Kamada Makoto 
Published: June 2005

AbstractPartial deletion of 16q is rare; to our knowledge only 12 cases have been published. Fryns et al. [Hum Genet 38:343–346, 1977] described the first of these cases and proposed a new clinical entity. Our patient was a girl and had many minor anomalies of the kind often observed in 16q‐ syndrome. Severe failure to thrive due to emesis and diarrhea were also observed. High resolution banding methods showed that the chromosome constitution of the patient was 46,XX,del(16)(q22.1q22.3). This suggests that 16q22 is critical for the syndrome. © 1992 Wiley‐Liss, Inc.
New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , Ramos A. L. 
Published: June 2005

AbstractWe describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome. © 1992 Wiley‐Liss, Inc.
Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons
Authors: Kirkilionis A. J. , Chudley A. E. , Greenberg C. R. , Yan D. L. , McGillivray B. , Hamerton J. L. 
Published: June 2005

AbstractWe report on a family showing transmission of the fra(X) gene by 3 nonpenetrant, fra(X) negative, normally intelligent, full and half‐brothers to their affected grandsons. The mothers of the affected boys are obligate carriers, fra(X) negative, and of normal intelligence. This family illustrates the “Sherman Paradox” and is compatible with the predictions of the Laird X‐inactivation imprinting model. In addition molecular and/or cytogenetic studies have enabled at‐risk relatives to learn more about their carrier fra(X) status and have allowed for more accurate genetic counselling. © 1992 Wiley‐Liss, Inc.
Opitz (BBB/G) syndrome: Oral manifestations
Authors: Brooks John K. , Leonard Claire O. , Coccaro Peter J. 
Published: June 2005

AbstractWe studied a new case of the G (Opitz BBB/G) syndrome in a 12‐year‐old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high‐arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females. © 1992 Wiley‐Liss, Inc.
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro‐Acro‐Visceral Early lethality (CAVE) multiplex syndrome
Authors: Verloes Alain , Gillerot Yves , Langhendries Jean‐Paul , Fryns Jean‐Pierre , Koulischer Lucien 
Published: June 2005

AbstractWe report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic postaxial polydactyly. Twenty‐seven previous cases of congenital hypothalamic embryonic tumours with associated congenital defects are reviewed. A classification in isolated, associated, and syndromal forms is proposed. The difficulties encountered in differential diagnosis between the syndromal form (mainly represented by the Pallister‐Hall syndrome) and related diseases as Smith‐Lemli‐Opitz type II, holoprosencephaly‐polydactyly, orofaciodigital type VI and hydrolethalus syndromes are outlined. Two pathogenic mechanisms are discussed: a classical pleiotropic model and single sequence model. The latter is sufficient to delineate syndromal hypothalamic hamartoblastoma. With the former, syndromal hypothalamic hamartoblastoma cannot be clearly recognized in the absence of a CNS tumour, a child with syndromal hypothalamic hamartoblastoma cannot be reliably diagnosed as Pallister‐Hall rather than another MCA syndrome, and, ultimately, the existence of Pallister‐Hall syndrome could be questioned, as it could only be the extreme expression of one or several other syndromes. As this hypothesis cannot be proven or disproven at this point, the authors suggest creating the concept of multiplex phenotype. “Cerebro‐Acro‐Visceral Early lethality multiplex syndrome” is suggested to encompass all the ambiguous cases. Within this complex, an operative classification key is proposed. © 1992 Wiley‐Liss, Inc.
Craniosynostosis associated with partial duplication of 15q and deletion of 2q
Authors: Van Allen M. I. , Siegel‐Bartelt J. , Feigenbaum A. , Teshima I. E. 
Published: June 2005

AbstractWe report on an infant with multiple congenital anomalies including complex craniosynostosis associated with an unbalanced karyotype, 46,XY, − 2, + der(2),t(2;15)(q37;q26)pat. The previous report of a child with cloverleaf skull and partial duplication of 15q25→qter and the Man‐on‐Mouse Homology map suggests that a critical segment for synostosis of sutures may be in this region. © 1992 Wiley‐Liss, Inc.
Cervical spine in the Apert syndrome
Authors: Kreiborg Sven , Barr Mason , Cohen M. Michael 
Published: June 2005

AbstractRadiographs of the cervical spine—in many cases longitudinal—were available for study in 68 cases of Apert syndrome. Autopsy material was available in one of these cases, and a 3‐dimensional reconstruction from a CT scan was also studied in one case. Variable degrees of fusion were observed, involving the articular facets, the neural arch or transverse processes, or block fusion of the vertebral bodies. Ossification may not always be evident in some early radiographs. However, early radiographic signs of impending fusion may be irregularity in vertical orientation of the vertebral bodies and narrowing of the involved intervertebral spaces. Cervical fusions occurred in 68%, single fusions being found in 37%, and multiple fusions in 31%. C5−C6 fusion was most common, alone or in combination with other fusions. In contrast, cervical fusions are known to occur in 25% of Crouzon patients, most commonly involving C2−C3 only. It appears that when fusions are present, C5−C6 involvement in the Apert syndrome and C2−C3 involvement in the Crouzon syndrome separate the 2 conditions in most cases. Because cervical anomalies may complicate an already compromised airway in any form of acrocephalosyndactyly, it is imperative to initiate radiographic study of the cervical spine before undertaking anesthesia for surgery. © 1992 Wiley‐Liss, Inc.
Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes
Authors: Callen D. F. , Eyre H. , Yip M‐Y. , Freemantle J. , Haan E. A. 
Published: June 2005

AbstractThe molecular cytogenetic characterization and clinical details of 20 patients with marker chromosomes are presented. These 20 patients, together with another 22 patients previously published, represent a cohort in which the chromosomal origin of the marker chromosomes was successfully determined in all but one case. Examination of the pooled data suggests that the satellited markers derived from chromosomes 14, 15 (when metacentric or submetacentric), those whose origin is either 13 or 21, and those small ring autosomal markers derived from both alphoid and satellite II or III pericentric hetero‐chromatin of chromosomes 1, 9, 15, and 16 are all associated with a low risk of phenotypic abnormality. The markers identified as i(18p), ring chromosomes derived from various autosomes, and satellited markers derived from chromosome 22 are associated with a high risk of phenotypic abnormality. The phenotype of patients with acrocentric markers derived from chromosome 15 was equivocal, perhaps as a result of imprinting. Additional data are required to confirm these trends. The mild mental retardation and abnormal face of a patient with a small ring chromosome derived from chromosome 4 are described. Identification of patients with small rings originating from particular chromosomes may allow the recognition of new syndromes. © 1992 Wiley‐Liss, Inc.
Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3
Authors: Meng Jianguo , Fujita Hiroko , Nagahara Noboru , Kashiwai Akira , Yoshioka Yasushi , Funato Masahisa 
Published: June 2005

AbstractWe report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc.
Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease
Authors: Ikonen Elina , Salo Armi , Somer Mirja , Somer Hannu , Pääkkönen Leena , Peltonen Leena 
Published: June 2005

AbstractA 15‐year‐old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf‐Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus. © 1992 Wiley‐Liss, Inc.
Platelet dysfunction in a patient with the Opitz (BBBG) syndrome
Authors: Kapoor Rohit , Rodgers George M. 
Published: June 2005

AbstractAn 11‐year‐old girl with Opitz (BBBG) syndrome presented with a bleeding disorder. Studies showed an immune‐mediated qualitative platelet dysfunction in the absence of thrombocytopenia. This is the first report of hemostatic dysfunction in a patient with the Opitz (BBBG) syndrome. This report considers the possible relationship of the platelet dysfunction to the Opitz (BBBG) syndrome and its treatment. © 1992 Wiley‐Liss, Inc.
Chondrodysplasia punctata: A boy with X‐linked recessive chondrodysplasia punctata due to an inherited X‐Y translocation with a current classification of these disorders
Authors: Wulfsberg Eric A. , Curtis Jerri , Jayne Carol H. 
Published: June 2005

AbstractChondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are nonspecific and have been seen in a wide variety of disorders including the Zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin‐K‐epoxide‐reductase deficiency, chromosome trisomies 18 and 21, the Smith‐Lemli‐Opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46‐X, +der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic DNA probe analysis was interpreted as showing that the translocation breakpoint was within the X‐linked Kallmann syndrome gene. We review a current classification of these disorders that includes 3 well‐defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X‐linked dominant type with presumed male lethality, and an X‐linked recessive type that has only been described as part of a contiguous gene deletion syndrome. © 1992 Wiley‐Liss, Inc.
New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies
Authors: Finucane Brenda , Kurtz Michael B. , Scott Charles I. 
Published: June 2005

AbstractWe present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. © 1992 Wiley‐Liss, Inc.
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)
Authors: Kan A. E. , Kozlowski K. 
Published: June 2005

AbstractWe report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder. © 1992 Wiley‐Liss, Inc.
Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
Authors: Phelan Mary C. , Thomas Gordon R. , Saul Robert A. , Rogers R. Curtis , Taylor Harold A. , Wenger David A. , McDermid Heather E. 
Published: June 2005

AbstractWe report on a 3‐year‐old boy with a terminal deletion of 22q. The activity of alpha‐N‐acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55. © 1992 Wiley‐Liss, Inc.
CNS midline anomalies in the opitz G/BBB syndrome: Report on 12 Brazilian patients
Authors: Guion‐Almeida M. L. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on 12 Brazilian boys with the Opitz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy‐Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome. © 1992 Wiley‐Liss, Inc.
Parental origin determination in thirty de novo Robertsonian translocations
Authors: Shaffer Lisa G. , Jackson‐Cook Colleen K. , Stasiowski Beth A. , Spence J. Edward , Brown Judith A. 
Published: June 2005

AbstractCytogenetic heteromorphisms and restriction fragment length polymorphisms were used to assign the parental origins of 30 de novo non‐homologous Robertsonian translocations. The balanced and unbalanced translocations studied included 20 rob(14q21q) four rob(13q14q) four rob(15q21q) one rob(13q15q), and one rob(13q21q). Significantly more maternally (26/30) than paternally (4/30) derived de novo translocations were noted and all rob(14q21q) ascertained through unbalanced probands (20/20) were maternal in origin. Interestingly, 12/13 probands who were trisomic and informative for proximal chromosome 21q loci were homozygous for the markers tested. Segregation (2:1) of the Robertsonian translocation into one daughter cell in meiosis I and subsequent failure of the chromosome 21 chromatids to separate in meiosis II may account for our observation of homozygosity for proximal chromosome 21 loci in the majority of de novo rearrangements tested. © 1992 Wiley‐Liss, Inc.
Ullrich‐Turner syndrome with a small ring X chromosome and presence of mental retardation
Authors: Van Dyke Daniel L. , Wiktor Anne , Paliner Catherine G. , Miller Dorothy A. , Witt Michal , Babu V. Ramesh , Worsham Maria J. , Roberson Jacquelyn R. , Weiss Lester 
Published: June 2005

AbstractSince some patients with Ullrich‐Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high‐risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y‐derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated.We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference <10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A “triangular” face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45, X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS. © 1992 Wiley‐Liss, Inc.