bluuebunny/crossref_metadata_2025_split huggingface dataset:
Amelia of the arms and Femur/Fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple
Authors: Lipson Anthony H. 
Published: June 2005

AbstractA male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur‐Fibula dysostosis syndrome with or without splenogonadal fusion. © 1995 Wiley‐Liss, Inc.
Genital abnormalities in females with Bardet‐Biedl syndrome
Authors: Stoler Joan M. , Herrin John T. , Holmes Lewis B. 
Published: June 2005

AbstractThe major manifestations of the Bardet‐Biedl syndrome are digital anomalies, tapetoretinal degeneration, obesity, renal abnormalities, and hypogenitalism (described mainly in males). We report on 2 girls with Bardet‐Biedl syndrome who also had vaginal atresia. A similar association in females with Bardet‐Biedl syndrome was suggested in published reports of 11 affected individuals who had structural genital abnormalities, (some of which were missed in childhood), including persistent urogenital sinus, ectopic urethra, hypoplasia of the uterus, ovaries and fallopian tubes, uterus duplex, and septate vagina. The association of atresia of the vagina and other malformations of female genital structures in individuals with Bardet‐Biedl syndrome has often been missed in childhood and should be looked for more systematically. © 1995 Wiley‐Liss, Inc.
Male pseudohermaphroditism in sibs with the α‐thalassemia/mental retardation (ATR‐X) syndrome
Authors: Reardon W. , Gibbons R. J. , Winter R. M. , Baraitser M. 
Published: June 2005

AbstractGenital abnormalities have been noted in several patients with the X‐linked form of α‐thalassemia and mental retardation syndrome (ATR‐X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as male pseudohermaphroditism. © 1995 Wiley‐Liss, Inc.
Familial Mediterranean fever: High gene frequency among the non‐Ashkenazic and ashkenazic Jewish populations in Israel
Authors: Daniels M. , Shohat T. , Brenner‐Ullman A. , Shohat M. 
Published: June 2005

AbstractFamilial Mediterranean fever (FMF) is an autosomal recessive recurrent episodic inflammatory disorder that occurs with high frequency in certain populations in the Mediterranean area. Using extended pedigree data of 90 FMF probands, we calculated the FMF gene frequency in various ethnic groups in Israel by analyzing the frequency in a total of 2,312 first cousins. The heterozygote frequencies were as follows: 1:4.9 (0.2 ± 0.06) for the Libyan subgroup, 1:6.4 (0.16 ± 0.03) for the other North African countries subgroup, 1:13.3 (0.07 ± 0.04) for the Iraqi subgroup, 1:11.4 (0.09 ± 0.06) for the Ashkenazic subgroup, and 1:29.4 (0.03 ± 0.03) for the remaining ethnic groups. The observed number of affected parents and offspring of the probands was in agreement with the estimated gene frequency. Thus, the FMF gene frequency is very high in all Jewish ethnic groups in Israel, especially those originating in North African countries. This also explains the parent‐to‐off‐spring transmission of FMF reported in North‐African Jews. © 1995 Wiley‐Liss, Inc.
De novo interstitial deletion q16.2q21 on chromosome 6
Authors: Villa Amelia , Urioste Miguel , Bofarull Josep M. , Martínez‐Frías María‐Luisa 
Published: June 2005

AbstractA de novo interstitial deletion of 6q16.2q21 was observed in a 23‐month‐old boy with mental and psychomotor delay, obese appearance, minor craniofacial anomalies, and brain anomalies. We compare clinical manifestations of this patient with those observed in previously reported cases with similar 6q interstitial deletions. It is interesting to note the clinical similarities between some patients with interstitial deletions of 6q16 or q21 bands and patients with Prader‐Willi syndrome (PWS) and it may help to keep in mind cytogenetic studies of patients with some PWS findings. © 1995 Wiley‐Liss, Inc.
Germline mosaicism at the fragile X locus
Authors: Prior Thomas W. , Papp Audrey C. , Snyder Pamela J. , Sedra Mary S. , Guida Marco , Enrile Benedicta G. 
Published: June 2005

AbstractWe have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations. © 1995 Wiley‐Liss, Inc.
Localization of a gene for X‐linked nonspecific mental retardation (MRX24) in Xp22.2–p22.3
Authors: Martínez Francisco , Gal Andreas , Palau Francisco , Prieto Félix 
Published: June 2005

AbstractNonspecific X‐linked mental retardation (MRX) includes several distinct genetic entities in which mental retardation is not associated with additional distinguishing physical changes. We report linkage data in a Spanish family with MRX, using polymorphic DNA markers distributed over the X chromosome. Two‐point linkage analysis demonstrated close linkage between the MRX locus and DXS85 in Xp22.3 with a peak lod score of 2.28 at a Ø = 0.00. Analysis of multiple informative meioses suggested a localization of the MRX locus (MRX24) between DXS278 and DXS207. Multipoint linkage analysis resulted in a maximum LOD score of 2.45 at 3 cM proximal to DXS85, and allowed us to reject a localization of the MRX24 gene in all other regions from Xp21–Xqter. These findings localize the MRX24 gene in the chromosomal region Xp22.2–p22.3. © 1995 Wiley‐Liss, Inc.
Pelizaeus‐Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
Authors: Pratt Victoria M. , Boyadjiev Simon , Dlouhy Stephen R. , Silver Kenneth , Kaloustian Vazken M. Der , Hodes M. E. 
Published: June 2005

AbstractSingle‐strand conformational polymorphism analysis of an affected male with Pelizaeus‐Merzbacher disease (PMD) showed a slight change in mobility of amplified exon 5 of the proteolipid protein (PLP) gene. The exon was sequenced and a G → A transition at codon 216 was found. This mutation eliminates a BstNI restriction site and creates a MaeI restriction site. In 1989, Gencic et al. reported a mutation that destroyed the same BstNI site, but resulted in a substitution at codon 215 [Am J Hum Genet 45:435–442]. The mutation we report here is also present in the patient's mother and her male fetus as determined by polymerase chain reaction analysis of amniocytes. © 1995 Wiley‐Liss, Inc.
Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components
Authors: Alvarez Victoria , Coto Eliecer , Setién Fernando , Spath Peter J. , López‐Larrea Carlos 
Published: June 2005

AbstractDNA polymorphisms (RFLPs) of the human complement component C6, C7, and C9 genes were studied in three C7‐deficient (C7D) families, one C6‐deficient (C6D) family, and one C9‐deficient (C9D) family. The 3 loci are closely linked on human chromosome 5. The haplotypes carrying the “silent” allele (C7*Q0, C6*Q0, and C9*Q0) were defined in each family, allowing for the detection of carriers among asymptomatic relatives. This paper describes familial studies on a type of hereditary trait, characterized by recurrent Neisseria infections in individuals homozygous for “silent” alleles at the C6, C7, or C9 loci. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of chromosome 15 abnormalities in the Prader‐Willi/Angelman syndrome region by traditional and molecular cytogenetics
Authors: Toth‐Fejel SuEllen , Magenis R. Ellen , Leff Stuart , Brown Michael G. , Comegys Bonnie , Lawce Helen , Berry Toby , Kesner David , Webb Mary Jane , Olson Susan 
Published: June 2005

AbstractWith improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader‐Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q‐ and R‐banding and used in conjunction with PWS/AS region‐specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome.We report four de novo cases of an abnormal‐appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G‐, Q‐, and R‐banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm.In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCORPWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow‐up was not available on these samples, as in all cases the parents chose to terminate the pregnancies.These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. © 1995 Wiley‐Liss, Inc.
Ectrodactyly and proximal/intermediate interstitial deletion 7q
Authors: McElveen Cathy , Carvajal M. Virginia , Moscatello Deborah , Towner Janet , Lacassie Yves 
Published: June 2005

AbstractWe report on an individual with sever mental retardation, seizures, microcephaly unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7c (qll.23q22). From our review of the litera ture, 11 patients have been reported with ectrodactyly (split hand/split foot malforma tion) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment. © 1995 Wiley‐Liss, Inc.
Cystic kidney disease in Hajdu‐Cheney syndrome
Authors: Kaplan Paige , Ramos Feliciano , Zackai Elaine H. , Bellah Richard D. , Kaplan Bernard S. 
Published: June 2005

AbstractWe report on 2 unrelated patients with Hajdu‐Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasono‐graphic changes similar to those of auto‐somal dominant polycystic kidney disease. Neither had a family history of Hajdu‐Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu‐Cheney syndrome. © 1995 Wiley‐Liss, Inc.
Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p
Authors: Al‐Attia Haider M. , Sedaghatian Mohamed R. 
Published: June 2005

AbstractThis is a case report of a 16‐year‐old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2→q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem. © 1995 Wiley‐Liss, Inc.
CD1+ cells in mothers of stillborn infants with neural tube defects
Authors: Seniz Fatma Nur , Müftüoǧlu Ekrem , Batun M. Sabri , Say Burhan 
Published: June 2005

AbstractIn healthy individuals, CD1+ cells are found in thymic tissue, but not in peripheral blood. The thymus, as a key organ of the neuroendocrine system, frequently shows gross abnormalities in infants with neural tube defects. In order to study the immuno‐logic significance of fetal thymic findings, maternal T‐lymphocyte subpopulations were investigated. In 10 mothers of healthy new‐borns, 5 mothers of stillborn infants who had no gross abnormalities, and 5 mothers of stillborn infants with neural tube defects, CD1+, CD3+, CD4+, and CD8+ cells were studied. Only the mothers of the infants with open neural tube defects showed CD1 + cells in their peripheral blood. © 1995 Wiley‐Liss, Inc.
New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome)
Authors: Devi Anne S. , Eisenfeld Leonard , Uphoff Dean , Greenstein Robert 
Published: June 2005

AbstractWe report on two unrelated male infants with similar findings of communicating hy‐drocephalus, endocardial fibroelastosis (EFE) and congenital cataracts, who died at 4 months of age. Both mothers reported an upper respiratory infection during the first trimester of pregnancy which was further complicated by polyhydramnios in the third trimester. The infants were diagnosed with bilateral congenital nuclear cataracts at birth. Serologic tests for toxoplasmosis, rubella, cytomegalovitrus, herpes simplex virus, syphilis, and galactosemia screens were negative. Chromosome analyses were, normal. Both children developed communicating hydrocephalus between one and three months after birth. Patient 1 died suddenly at 4 months following an upper respiratory infection. Patient 2 developed congestive heart failure and also died at 4 months. At autopsy, both infants had enlarged hearts with endocardial fibroelastosis. No identifiable organism could be isolated. We discuss the association of birth defects in widely separated organ systems in these patients and suggest that this may represent a genetic syndrome; however, a viral etiology cannot entirely be excluded. We believe this is a distinct disorder and propose the acronym HEC for hydrocephalus, EFE and cataracts. © 1995 Wiley‐Liss, Inc.
Novel spinal dysplasia in two generations
Authors: Anhalt Henry , Parker Bruce , Paranjpe D. V. , Neely E. Kirk , Silverman Frederic N. , Rosenfeld Ron G. 
Published: June 2005

AbstractWe report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic evaluation of the propositus (son), obtained due to maternal pre‐eclampsia, suggested an abnormal spine. At birth, no congenital anomalies were noted and transition to extra‐uterine life was smooth. Radiographs performed five days after birth showed spina bifida, hemivertebrae in the mid‐thoracic region, and widened lumbar in‐terpedicular distances. MRI of the lower thoracic and lumbar vertebrae documented crescent‐shaped appearance of the affected vertebrae and abnormally narrow A‐P diameter of the vertebral bodies. Intervertebral discs were small, and the posterior elements, as well as the spinous processes of the affected vertebrae, were markedly hypoplas‐tic. However, there was no narrowness of the spinal canal, and the limbs were unaffected. CT scan with three‐dimensional reformatting of the thoracic and lumbar vertebrae documented unusual sagittal clefting of all of the vertebral bodies, which has previously been undescribed.The father had severe kyphoscoliosis and a height of 131.6 cm (−7.5 S.D.). Radiograph‐ically, he was found to have multiple segmentation anomalies and diminished A‐P diameter of his affected vertebral bodies. The multiple vertebral anomalies are the probable cause for the father's severe kyphoscoliosis. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition and that father represennts a de novo mutationn. These radiographic abnormalities have not been described previously and represent a new form o vertebral spinal dysplasia. © 1995 Wiley‐Liss, Inc.
Tumors in Rubinstein‐Taybi syndrome
Authors: Miller Robert W. , Rubinstein Jack H. 
Published: June 2005

AbstractThe 14 tumors reported in Rubinstein‐Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. Among the neoplasms were 12 of the nervous system: 2 each of oligodendroglioma, medulloblastoma, neuroblastoma, and benign meningioma, a pheochromocytoma, and 3 other benign tumors; 2 of nasopharyngeal rhabdomyo‐sarcoma; and 1 each of leiomyosarcoma, seminoma, and embryonal carcinoma. Among the other benign tumors were an odontoma, a choristoma, a dermoid cyst, and 2 pilomatrixomas. © 1995 Wiley‐Liss, Inc.
Bilateral ulna hypoplasia, club feet, and mental retardation: A new mesomelic syndrome
Authors: Kohn G. , Malinger G. , El Shawwa R. , Scheinfeld A. , Tepper R. , Ornoy A. , Lachman R. , Rimoin D. L. 
Published: June 2005

AbstractWe report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome. © 1995 Wiley‐Liss, Inc.
Agenesis of the corpus callosum and Dandy‐Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome
Authors: Dodge Nancy N. , Dobyns William B. 
Published: June 2005

AbstractThe sebaceous nevus syndrome is sometimes associated with hemimegalencephaly and a group of related abnormalities including ipsilateral gyral malformation, mental retardation, seizures, especially infantile spasms, and facial hemihypertrophy. This combination has been described as the “neurological variant of epidermal nevus syndrome.” Other brain malformations have been reported only rarely. We report on a child with a subtle sebaceous nevus associated with hemimegalencephaly who also had agenesis of the corpus callosum and Dandy‐Walker malformation. © 1995 Wiley‐Liss, Inc.
Severe case of al Awadi/Raas‐Rothschild syndrome or new, possibly autosomal recessive facio‐skeleto‐genital syndrome
Authors: Mollica Florindo , Mazzone Domenico , Cimino Gabriella , Opitz John M. 
Published: June 2005

AbstractA Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas‐Rothschild syndrome (limb/pelvis‐hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio‐skeleto‐genital syndrome cannot be excluded. © 1995 Wiley‐Liss, Inc.
Familial inverted duplication 7p
Authors: Schaefer G. Bradley , Novak Kelli , Steele David , Buehler Bruce , Smith Shelley , Zaleski Dianna , Pickering Diane , Nelson Marilu , Sanger Warren 
Published: June 2005

AbstractA 10‐month‐old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2→p13 portion of chromosome 7[46, XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication. © 1995 Wiley‐Liss, Inc.
Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
Authors: Lindsay Elizabeth A. , Greenberg Frank , Shaffer Lisa G. , Shapira Stuart K. , Scambler Peter J. , Baldini Antonio 
Published: June 2005

AbstractDiGeorge anomaly (DGA) and velo‐cardiofacial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22q11. Most patients have a submicroscopic deletion, recently estimated to be at least 1–2 Mb. It is not clear whether individuals who present with only some of the features of these conditions have the deletion, and if so, whether the size of the deletion varies from those with more classic phenotypes. We have used fluorescence in situ hybridization (FISH) to assess the deletion status of 85 individuals referred to us for molecular analysis, with a wide range of DGA‐like or VCFS‐like clinical features. The test probe used was the cosmid sc11.1, which detects two loci about 2 Mb apart in 22q11.2. Twenty‐four patients carried the deletion. Of the deleted patients, most had classic DGA or VCFS phenotypes, but 6 deleted patients had mild phenotypes, including 2 with minor facial anomalies and velopharyngeal incompetence as the only presenting signs. Despite the great phenotypic variability among the deleted patients, none had a deletion smaller than the 2‐Mb region defined by sc11.1 Smaller deletions were not detected in patients with particularly suggestive phenotypes who were not deleted for sc11.1, even when tested with two other probes from the DGA/VCFS region. © 1995 Wiley‐Liss, Inc.
Chromosome instability in ICF syndrome: Formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization
Authors: Sawyer Jeffrey R. , Swanson Charles M. , Wheeler Gary , Cunniff Christopher 
Published: June 2005

AbstractWe report on a new patient with immunodeficiency, centromeric heterochromatin instability, and facial anomalies (the ICF syndrome). Studies with traditional cytogenetic methods demonstrate that aberrations in this syndrome primarily involve the centromeric regions of chromosomes 1 and 16. We applied fluorescence in situ hybridization (FISH) using “painting” probes for chromosomes 1 and 16 to document the progression of centromeric instability from simple decondensation aberrations to the subsequent formation of complex multi‐branched chromosomes 1, and finally to the interphase aberrations of nuclear projections and micronuclei involving both chromosomes 1 and 16. The loss of the large multibranched chromosome 1 configurations from the cells as micronuclei suggests that the centromeric aberrations subsequently interfere with normal chromosome movement at anaphase in ICF syndrome. Circular areas of counterstained chromatin were observed by FISH in the micronuclei corresponding to the intertwined segments of centromeric heterochromatin seen involving multibranched chromosomes 1 in the patient's Gbanded chromosome study. The current hypothesis of recessive inheritance for this disorder suggests that the chromosomal aberrations are not a causative event in this syndrome; however, the chromosome aberrations are clearly an important basic diagnostic criterion. © 1995 Wiley‐Liss, Inc.
Trisomy 9: Review and report of two new cases
Authors: Arnold Georgianne L. , Kirby Russell S. , Stern Thomas P. , Sawyer Jeffrey R. 
Published: June 2005

AbstractTrisomy 9 is a relatively uncommon chromosome abnormality that may sometimes be seen in the nonmosaic state. We reviewed 23 mosaic and 15 nonmosaic cases of trisomy 9, including 2 new cases, in order to better define the prognosis and phenotype of this disorder. A recognizable trisomy 9 phenotype was identified and included a “bulbous” nose, microphthalmia, and dislocated limbs. Other nonspecific anomalies involving various organ systems were also common. With one exception, all survivors had severe mental impairment. Mosaicism for trisomy 9 predicted longer survival, but the degree of mosaicism in lymphocytes or fibroblasts did not predict survival or degree of impairment. Parental chromosome variations were not uncommon. In contrast to prior reports, no specific prognostic finding was identified. A meiotic origin with loss of a trisomic cell line in mosaic cases is suggested. © Wiley‐Liss, Inc.