bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21
Authors: Gurrieri Fiorella , Cammarata Marina , Avarello Rosa Maria , Genuardi Maurizio , Pomponi Maria Grazia , Neri Giovanni , Giuffrè Liborio 
Published: June 2005

AbstractEctrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand‐split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274–277]. We report on a third patient who had a de novo, apparently balanced t(6;7)(q21;q31.2) translocation and bilateral ulnar aplasia with postaxial oligodactyly. In spite of the different phenotypic effects observed in these 3 patients, we consider our case as further evidence that genes in 6q21 may play a role in distal limb development. © 1995 Wiley‐Liss, Inc.
Arthrogryposis multiplex congenita in an Arab kindred: Update
Authors: Jaber Lutfi , Weitz Raphael , Bu Xiangdong , Fischel‐Ghodsian Nathan , Rotter Jerome I. , Shohat Mordechai 
Published: June 2005

AbstractWe have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891–899].At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at birth, is expressed mainly by flexion contractures at the knees and elbows, with muscle hypotrophy/weakness around the involved joints. Five of the 6 individuals who were originally reported as having congenital and lethal heart defects were limited to one sibship. None of the new cases had heart defect or any associated malformation. Neurologic examination and electrophysiological studies demonstrated a neuropathic (non‐myopathic) type of arthrogryposis.This is an autosomal recessive trait with wide variability in expression and possibly incomplete penetrance in the females. Because of the high consanguinity rate, it allows the use of homozygosity linkage studies to map the gene for this disorder. © 1995 Wiley‐Liss, Inc.
SRY alone can induce normal male sexual differentiation
Authors: López Marisol , Torres Leda , Méndez Juan P. , Cervantes Alicia , Alfaro Guillermo , Pérez‐Palacios Gregorio , Erickson Robert P. , Kofman‐Alfaro Susana 
Published: June 2005

AbstractMost individuals with the rare 46,XX male “syndrome” arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y‐sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype.We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation. © 1995 Wiley‐Liss, Inc.
In‐frame deletion in the proteolipid protein gene of a family with Pelizaeus‐Merzbacher disease
Authors: Kleindorfer Dawn Olson , Dlouhy Stephen R. , Pratt Victoria M. , Jones Marylin C. , Trofatter James A. , Hodes M. E. 
Published: June 2005

AbstractWe describe an in‐frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3‐generation family with Pelizaeus‐Merzbacher disease. The mutation removes 49 amino acids of the PLP. © 1995 Wiley‐Liss, Inc.
Numerical syndromology: A mathematical approach to the nosology of complex phenotypes
Authors: Verloes Alain 
Published: June 2005

AbstractNumerical taxonomy is defined by Sneath and Sokal as the grouping of taxonomic units on the basis of their character states by numerical methods of multivariate data analysis, and syndromology as the study of multiple congenital anomaly (MCA) syndromes and of their nosology. We present here an application of those methods to the analysis of overlapping syndromes. The main advantage of numerical taxonomy is that it allows simultaneous objective and unweighted analysis of multiple traits, giving the possibility to test mathematically the clinical hypotheses about the heterogeneity between closely resembling syndromes and uncovering objective patterns of anomalies, to be compared with the subjective pattern recognition process which characterizes most of the diagnostic approach in syndromology. In this paper, we explored 5 syndromes whose most severe expression belongs to the cerebroacrovisceral early lethality (CAVE) phenotype: hydrolethalus, severe Smith‐Lemli‐Opitz, orofaciodigital type VI (Varadi‐Papp), holoprosencephaly‐polydactyly, and Pallister‐Hall syndromes, Fifty‐five published cases, including many overlapping cases, were submitted to principal factor analysis followed by hierarchical clustering and graphical scaling. Results show that the 5 syndromes clearly constitute independent phenotypic entities, that some of the original diagnoses have to be reconsidered, and that many of the overlapping cases may be unambiguously set in one category. Hypothalamic hamartoblastoma appears to be a nonspecific dysplasia occurring in any of the 5 disorders. © 1995 Wiley‐Liss, Inc.
Familial translocation resulting in Wolf‐Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39‐year‐old man with Wolf‐Hirschhorn syndrome
Authors: Wheeler Patricia G , Weaver David D. , Palmer Catherine G. 
Published: June 2005

AbstractA chromosomal translocation between chromosomes 4 and 8 resulting in Wolf‐Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf‐Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,−4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great‐uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39‐year‐old great‐uncle is the oldest reported individual with the Wolf‐Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. © 1995 Wiley‐Liss, Inc.
Tooth agenesis in down syndrome
Authors: Russell Björn G. , Kjær Inger 
Published: June 2005

AbstractWe studied the frequency and pattern of tooth agenesis in a Danish population with Down syndrome, trisomy 21 (46 females and 54 males). The control group consisted of a normal Danish population (2424 females and 2431 males) [Rølling, 1980: Scand J Dent Res 88:365–369; Ravn and Nielsen, 1973: Tandlaægebladet 77:12–22]. We found that individuals with Down syndrome have an occurrence of agenesis that is some 10 times greater that in the general population with a higher frequency in males than in females. Agenesis occurred more frequently in the mandible than in the maxilla and most often on the left side. The highly significant differences were primarily found in the occurrence of agenesis of the mandibular central incisors, followed by the maxillary lateral incisors and second premolars and the mandibular second premolars. The main components in the pattern of agenesis observed in Down syndrome are supposed to be related to the peripheral nervous systern and abnormal cartilagenous tissue. The present study on Down syndrome suggests that the dentition, with its many different anomalies, from agenesis to malformation, can be used as an indicator in evaluating different aspects in the patheogenetic of aneuploidy conditions. © 1995 Wiley‐Liss, Inc.
Fetal akinesia and multiple perinatal fractures
Authors: Chen Harold , Blackburn Will R. , Wertelecki Wladimir 
Published: June 2005

AbstractTwo newborn infants with fetal akinesia sequence were noted to have multiple perinatal fractures of the long bones. The radiographic manifestations are characterized by gracile ribs, thin long bones, and multiple diaphyseal fractures. Consistent histopathologic changes of bone are irregular with focal areas of extreme diaphyseal thinning, thin and long marrow spicules, and with or without callous formation at fracture sites. Pathogenic mechanisms of bone fractures in fetal akinesia sequence and the differential diagnoses of congenital/perinatal bone fractures are discussed. © 1995 Wiley‐Liss, Inc.
Spondyloenchondromatosis: Syndromic identity and evolution of the phenotype
Authors: Zack P. , Beighton P. 
Published: June 2005

AbstractWe present case details and depict the phenotypic manifestations of a dwarfing skeletal dysplasia in an adolescent boy who was first seen in early childhood. His initial clinical and radiological findings resembled those of pseudoachondroplasia but these subsequently metamorphosed to an appearance which was diagnostic of spondyloenchondromatosis. It is uncertain whether this latter condition is a homogeneous entity or a group of heterogeneous disorders. Pedigree data were consistent with autosomal recessive inheritance. © 1995 Wiley‐Liss, Inc.
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: A variant of Lowry‐Wood syndrome?
Authors: Yamamoto Toshiyuki , Tohyama Jun , Koeda Tatsuya , Maegaki Yoshihiro , Takahashi Yoshika 
Published: June 2005

AbstractWe report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. These manifestations were similar to those seen in Lowry‐Wood syndrome (LWS). He also had hypoplasia of the corpus callosum and leukonychia totalis, which were not described in the previous cases. © 1995 Wiley‐Liss, Inc.
Heterotaxia syndrome and autosomal dominant inheritance
Authors: Alonso Sandrine , Pierpont Mary Ella , Radtke Wolfgang , Martinez José , Chen Su‐Chiung , Grant James W. , Dähnert Ingo , Taviaux Sylvie , Romey Marie‐Catherine , Demaille Jacques , Bouvagnet Patrice 
Published: June 2005

AbstractPrevious familial cases of recurrent hetero‐taxia have suggested an autosomal recessive or exceptionally X‐linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of heterotaxia. The other two families have one member with heterotaxia and at least one other affected member with an “isolated” heart malformation, which could be considered as a mild form of heterotaxia. In five families, the disorder is transmitted through two or three generations. In one family, the patients are of the same generation but are linked to each other by obligate carriers. We suggest a rule to classify these families with heart malformations, according to the etiologic factor involved (rule of precocity). This rule might be useful to other disruptions of morphogenetic processes. © 1995 Wiley‐Liss, Inc.
Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
Authors: Ninomiya Shinsuke , Narahara Kouji , Tsuji Kazushiro , Yokoyama Yuji , Ito Satoko , Seino Yoshiki 
Published: June 2005

AbstractThe association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and or sex reversal (SR) has led to an assignment of the CMPS1 SRA1 locus to 17q24.3→q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome. © 1995 Wiley‐Liss, Inc.
Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation
Authors: Scott Jennifer A. , Wenger Sharon L. , Steele Mark W. , Chakravarti Aravinda 
Published: June 2005

AbstractA 9‐year‐old, mildly mentally retarded girl presented with phenotypic manifestations of Down syndrome. G‐banded chromosomal analyses of peripheral blood lymphocytes from the patient and her parents, and skin fibroblasts from the patient, did not detect any abnormality. Molecular analysis of 15 highly polymorphic chromosome 21 dinu‐cleotide repeat markers demonstrated a partial duplication of the Down syndrome critical region (D21S55, subband 21q22.2) of maternal origin in the patient. The segmen‐tal trisomy was confirmed by FISH analysis using the cosmid probe D21S55. Further analysis demonstrated that the trisomy was due to segregation of an apparently balanced cryptic translocation from the mother. The patient's karyotype is 46,XX,‐12, tder(12)t(12;21)(p13.1;q22.2)mat. © 1995 Wiley‐Liss, Inc.
Major gene is responsible for anencephaly among Iranian Jews
Authors: Zlotogora Joël 
Published: June 2005

AbstractAnencephaly is relatively frequent in Jews originating from Iran, in particular when its incidence is compared to that of open spina bifida in the same population (12 cases of anencephaly out of 14 cases of neural tube defects). The high incidence of this disorder in Iranian Jews, a relatively isolated community with a very high rate of consanguinity, suggests that anencephaly is caused by a major recessive gene. This possibility is supported by the sex ratio among these patients, which was significantly different from that observed for patients with anencephaly in other populations. © 1995 Wiley‐Liss, Inc.
Classical Noonan syndrome is not associated with deletions of 22q11
Authors: Robin Nathaniel H. , Sellinger Beatrice , McDonald‐McGinn Donna , Zackai Elaine H. , Emanuel Beverly S. , Driscoll Deborah A. 
Published: June 2005

AbstractDeletions of 22qll cause DiGeorge sequence (DGS), velo‐cardio‐facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22qll deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22qll deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22qll deletion. A 2‐month‐old infant with several findings suggestive of NS did have a 22qll deletion, suggesting that a small number of 22qll deletion propositi may present with a NS‐like picture. However, most cases of NS must have another cause. © 1995 Wiley‐Liss, Inc.
Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group children
Authors: Gravholt Claus Højbjerg , Friedrich Ursula 
Published: June 2005

AbstractWe report on an unselected group of 24 children with small supernumerary marker i chromosomes, found in a large sample of 34,910 consecutive newborns karyotyped at I birth. Sixteen of these were available for re‐examination. With the use of in situ hybridization with a‐satellite centromere probes and satellite III, ribosomal and (3‐satellite DNA probes, we have characterized these markers. In 14 of the 16 cases we have been able to determine the chromosomal origin of the marker. Twelve of the markers are derived from the acrocentric chromosomes. Of these 12 markers, 4 are derived from chromosome 14, 4 from chromosome 22, 3 from I chromosome 15 and one is from either chromosome 13 or 21. Ten of these markers were j initially ascertained with the satellite III DNA probe, taking advantage of the fact 1 that satellite III DNA is found in the cen‐I tromeric region of the following chromo‐J somes: 1, 5, 9, 13, 14, 15, 16, 20, 21, 22, and Y. I Two markers were derived from chromo‐) somes 4 and 8. The origin of the last 2 mark‐i ers could not be determined with the techniques employed. Only one of these children is psychometrically retarded and has a pe culiar appearance. Unfortunately we were; not able to determine the origin of the I marker in her case. All other children developed normally. © 1995 Wiley‐Liss, Inc.
Choledochal cyst associated with rare hand malformation
Authors: Dudin Anwar , Abdelshafi Mustafa , Rambaud‐Cousson Annie 
Published: June 2005

AbstractWe report on an 8‐year‐old boy with choledochal cyst associated with most unusual hand malformation. Review of the literature and possible etiopathogenesis are discussed. © 1995 Wiley‐Liss, Inc.
Craniofacial and dental characteristics of Silver‐Russell syndrome
Authors: Kotilainen Johanna , Hölttä Päivi , Mikkonen Tapio , Arte Sirpa , Sipilä Ilkka , Pirinen Sinikka 
Published: June 2005

AbstractWe found significant differences in a craniometric, cephalometric, and dental study of 19 Silver‐Russell syndrome patients (13 without growth hormone treatment) with appropriate controls. Although head circumference was normal for age, head length was increased, while cranial and facial widths and facial heights were reduced. Posterior facial height, posterior cranial base length, cranial base height, and mandibular body size were significantly smaller than in healthy children of the same height. Articulatory speech disorders were common. Enamel defects pointed to an early prenatal insult. Delayed dental age and small mandibular and cranial base dimensions support the possibility of physiological growth hormone deficiency in many Silver‐Russell syndrome children; however, facial soft tissue structures were strikingly different from those observed in classical growth hormone deficiency. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9
Authors: Chitayat David , Hodgkinson Kathy , Luke Anthony , Winsor Elizabeth , Rose Toby , Kalousek Dagmar 
Published: June 2005

AbstractFive male fetuses with trisomy 9 are discussed. Three were detected prenatally and terminated, 1 aborted spontaneously, and the fifth delivered prematurely and died soon after. Multiple congenital abnormalities characteristic of trisomy 9 were detected in all 5 cases and are compared to those of previous reports. © Wiley‐Liss, Inc.
Unusual case of Smith‐Lemli‐Opitz syndrome “type II”
Authors: Seller Mary J. , Russell J. , Tint G. S. 
Published: June 2005

AbstractWe describe a fetus with abnormalities suggestive, but not typical, of severve Smith‐Lemli‐Opitz syndrome (SLO). Biochemical studies demonstrated that there was a defect of cholesterol biosynthesis similar to that recently discovered in children with SLO. The findings in this fetus extend even further the wide spectrum of abnormalities of the SLO phenotype, andemphasize that a genetic pathological examination and biochemical studies should always be undertaken on atypical cases, especially fetuses. © Wiley‐Liss, Inc.
Smith‐Lemli‐Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid
Authors: Rossiter Judith Pratt , Hofman Karen J. , Kelley Richard I. 
Published: June 2005

AbstractUntil recently, the diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS), an autosomal recessive malformation/mental retardation syndrome, was made on the basis of clinical criteria alone. As a result, prenatal diagnosis has been possible only if sonography disclosed distinct fetal malformations in a subsequent pregnancy. However, the recent description of increased levels of 7‐dehydrocholesterol (cholesta‐5,7‐dien‐3β‐ol) in patients with SLOS, most likely caused by a deficiency of 3β‐hydroxysteroid‐δ7‐reductase, has provided an apparently reliable biochemical marker for diagnosis of SLOS. To determine if this abnormality of sterol metabolism has utility for prenatal diagnosis of SLOS, we measured the levels of neutral sterols in stored amniotic fluid samples from two SLOS pregnancies. In both cases, the diagnosis of SLOS was made in the neonatal period by clinical criteria and the finding of markedly increased levels of 7‐dehydrocholesterol in plasma. Quantitative analysis by gas chromatography of sterols extracted from the amniotic fluid of both pregnancies revealed similar, markedly increased levels of 7‐dehydrocholesterol and its precursor, lathosterol (cholest‐7‐en‐3β‐ol), both of which were undetectable in reference amniotic fluids. These findings suggest that abnormalities of cholesterol biosynthesis in SLOS may be sufficiently expressed in fetal life to permit prenatal diagnosis of this disorder by measurement of 7‐dehydrocholesterol in amniotic fluid. © Wiley‐Liss, Inc.
De novo tandem duplication of chromosome segment 22q11‐q12: Clinical, cytogenetic, and molecular characterization
Authors: Lindsay Elizabeth A. , Shaffer Lisa G. , Carrozzo Romeo , Greenberg Frank , Baldini Antonio 
Published: June 2005

AbstractWe report on a case of duplication of the segment 22q11–q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the “cat‐eye,” Di George, and velo‐cardio‐facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of “cat‐eye” syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosagesensitive genes involved in development. © Wiley‐Liss, Inc.
Histopathology of fetal diastrophic dysplasia
Authors: Qureshi F. , Jacques S. M. , Johnson S. F. , Johnson M. P. , Hume R. F. , Evans M. I. , Yang S. S. 
Published: June 2005

AbstractWe report on three cases of diastrophic dysplasia in second trimester fetuses and discuss the differential diagnosis and clinical, radiologic, and histopathologic findings. Manifestations of typical diastrophic dysplasia in infants and older patients include abnormal pinnae, scoliosis, and joint contractures; these were absent in the fetuses, in keeping with the tendency for the clinical and radiologic aspects of this disease to become more severe with age. The histopathologic characteristics of the cartilage appear to be similar in the fetus and older patient, and therefore may be useful in differentiating diastrophic dysplasia from other osteochondrodysplasias in the second trimester. © Wiley‐Liss, Inc.
Further study of genetic interactions: Loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33)
Authors: Lurie Iosif W. 
Published: June 2005

AbstractSegment 4q33 is not considered a probable location of a gene related with limb deficiency by Roberts and Tabin [Am J Hum Genet 55:1–6, 1994]; however, the occurrence of ectrodactyly or its equivalents in at least 9 published cases of monosomy 4q33 suggests probable location of one of these genes in that region. Ulnar ray defects and/or ectrodactyly were the prevailing forms. An additional loss of the tip of 4p in patients with ring chromosome 4 leads to a change of limb deficiency type: 8 of 9 patients with r(4) and limb deficiency had radial ray defects. Therefore, interactions between a proposed ½ dose “ectrodactyly” gene on 4q33 and some ½ dosage genes on distal 4p (or disturbed cellular homeostasis due to a ring chromosome 4) can change the developmental pattern of limb deficiency. Possible mechanisms and significance of the Phenomenon are discussed. © Wiley‐Liss, Inc.