bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial posterior helical ear pits and Wiedemann‐Beckwith syndrome
Authors: Best Lyle G. 
Published: June 2005

AbstractMultiple cases of posterior helical ear pits (PHEP) with apparent autosomal dominant inheritance in a very large family are reported. There are at least 2 cases of Wiedemann‐Beckwith syndrome (WBS) within this family. Three other instances of familial PHEP and/or WBS are presented. An individual with a somewhat atypical osteopetrosis and PHEP is described. The previous literature of PHEP and the association with WBS is reviewed.
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis
Authors: Teebi Ahmad S. , Hassoon Mohammed M. 
Published: June 2005

AbstractThe urofacial syndrome is an autosomal recessive disorder of distorted facial expression and neurogenic bladder with resultant urogenital tract damage. We report on an 8‐year‐old boy of consanguineous Arab parents with inverted facial expression upon laughing and renal changes as a consequence of a neurogenic bladder in addition to hydrocephalus due to stenosis of the aqueduct of Sylvius. We suggest that the association is not fortuitous and probably widens the spectrum of urofacial syndrome or represents a distinct entity mimicking the urofacial syndrome.
Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I
Authors: Bale Sherri J. , Amos Christopher I. , Parry Dilys M. , Bale Allen E. 
Published: June 2005

AbstractOccipitofrontal circumference (OFC) was strongly correlated with height in 72 normal Caucasian men (r = 0.28, P = 0.018) and 78 women (r = 0.53, P < 0.0001). OFC : height ratios were approximately normally distributed in each sex with a mean of 0.326 (standard deviation [sd] = 0.0139) in males and 0.335 (sd = 0.0177) in females. Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven ofnine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non‐probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and six of nine non‐probands with NF1. Thirty‐one percent of the non‐proband NBCC cases had OFC less than the 50th centile for height, while none of the NF1 cases had this finding. Head size appears to be related to proband status in NBCC, while the evidence suggests that NF1 is a true macrocephaly syndrome. Objective detection of relative abnormalities in head size may aid in syndrome delineation and diagnosis.
Animal model: Chromosomal fragile site expression in dogs: I. Breed specific differences
Authors: Stone Diana M. , Jacky Peter B. , Hancock Dale D. , Prieur David J. 
Published: June 2005

AbstractPeripheral blood lymphocytes from clinically normal Doberman pinscher and boxer dogs were cultured for folate‐sensitive and, in preliminary studies, aphidicolin‐inducible fragile site expression. Both autosomal and X chromosomal fragile sites were observed in canine cells cultured under folate/thymidine depletion and in cells cultured in medium containing aphidicolin. Results from the three dogs evaluated for both folate‐sensitive and aphidicolin‐inducible fragile site expression showed that the frequency of fragile site expression was significantly (P < 0.05) greater in cells cultured in medium containing aphidicolin than in cells cultured in folate/thymidine‐depleted medium. Cells from the boxer dog expressed a high percentage (66.67%) of aphidicolin‐inducible fragile sites in contrast to the Doberman pinscher dog in which only 21.10% of the lymphocytes expressed aphidicolin‐inducible fragile sites. The frequencies of spontaneous and folatesensitive fragile site expression did not vary significantly by breed of dog. Age of dog was significantly and positively correlated with frequency of folate‐sensitive fragile site expression in dogs of the boxer breed, but not in dogs of the Doberman pinscher breed. The dog X chromosome expressed three folatesensitive and aphidicolin‐inducible fragile sites. The G‐band location of these three fragile sites showed homology with three recognized constitutive common fragile sites on the human X chromosome: Xp22, Xq21, and Xq27.2. Two specific autosomal fragile sites were identified, one on the distal end of the long arm of chromosome 1 and one on the distal end of the long arm of chromosome 8. Other autosomal fragile sites were also apparent but could not be assigned reliably to specific chromosomes.
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome
Authors: Gabrielli Orazio , Catassi Carlo , Carlucci Antonio , Coppa Giovanni V. , Giorgi Pierluigi 
Published: June 2005

AbstractWe report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593‐600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.
Immunoglobulin class and subclass deficiencies prior to Epstein‐Barr virus infection in males with X‐linked lymphoproliferative disease
Authors: Grierson Helen L. , Skare James , Hawk John , Pauza Mary , Purtilo David T. 
Published: June 2005

AbstractPatients with X‐linked lymphoproliferative (XLP) disease are characterized by extreme vulnerability to Epstein‐Barr virus (EBV). Following infection with EBV, affected males develop fatal infectious mononucleosis (IM), hypogammaglobulinemia (H), or non‐Hodgkin's lymphoma (NHL). In addition, hyper IgM, red cell aplasia, necrotizing lymphoid vasculitis (NLV), and aplastic anemia occur rarely. The recent use of DNA restriction fragment length polymorphism (RFLP) probes in linkage with the XLP gene now permit detection of affected males prior to primary EBV infection. We have measured immunoglobulin class and subclass levels in sera from EBV‐negative males who were either positive or negative for the XLP genotype by RFLP analysis. Elevated IgA or IgM and/or variable deficiency of IgG, IgG1, and IgG3 occurred in the sera of 13/13 RFLP‐positive, EBV‐negative males. No consistent abnormalities were noted in 14 RFLP‐negative, EBV‐negative males. We conclude that the immune defect in XLP is not solely EBV‐specific, although EBV is responsible for most of the morbidity and all of the mortality. Further, serial measurement of Ig levels may provide information regarding status of EBV‐negative males at risk where RFLP analysis is uninformative or in families where sporadic cases of fatal IM, acquired hypogammaglobulinemia or NHL have occurred, but wherein the genotype of XLP cannot be documented.
Characteristics of the postcounseling reproductive decision‐making process: An explorative study
Authors: Frets Petra G. , Verhage Frans , Niermeijer Martinus F. 
Published: June 2005

AbstractAn in‐depth, recorded interview of 30 couples 2–3 years after genetic counseling explored the characteristics of the postcounseling decision‐making process, including the role of guilt feelings towards the proband. The study concerned couples with an affected child, sib, or spouse. Results were evaluated by 2 to 4 judges. In contrast to other studies, a generally unstructured decision‐making process was found whereby guilt feelings played a significant role in more than half the couples. Guilt feelings were more predominant in couples with an affected sib than in those with an affected spouse. Lack of structure did not seem to complicate the decision‐making process. Therefore, authors do not advocate promotion of structuring the decision‐making process. Genetic counselors might focus on understanding counselees' feelings concerning the reproductive decision. Acceptance of apparently irrational considerations is particularly important, because these feelings indicate the influence of unconscious motives. Another important aspect of supporting counselees is to understand the role played by guilt feelings toward parents or an affected sib.
Animal models: Prenatal diagnosis of Chediak‐Higashi syndrome in the cat by evaluation of cultured chorionic cells
Authors: Kahraman M. Müfit , Prieur David J. 
Published: June 2005

AbstractThe autosomal recessive disease Chediak‐Higashi syndrome (CHS) is a progressive and generally fatal disease of humans. The under lying genetic defect in CHS is unknown and prenatal diagnostic methods have not been applied to this disease. The purpose of this study was to determine if CHS chorionic cells expressed a characteristic of CHS—enlarged lysosomes—that would permit the prenatal diagnosis of the disease. Cats with CHS, which have been shown to be homologous with human CHS, were used as the model system in this study. Chorionic tissue samples were obtained from CHS and control cat fetuses and cultures of cells were established. Acid phosphatase was utilized as a marker of lysosomes and cultures of chorionic fibroblasts from CHS and control fetuses were stained histochemically for acid phosphatase. The diameter of the largest lysosomes in 150 cells of each fetus was determined. The mean (±SD) diameter (in μm) of the largest lysosomes of normal fetuses was 0.9 ± 0.13 (range 0.5–7.0 μm), whereas the mean diameter of lysosomes in CHS chorionic cells was 3.9 ± 0.65 μm (range 0.5–25 μm). These means were significantly different (P < 0.0001). These data suggest that it should be possible to diagnose human CHS in the first trimester by chorionic villus sampling.
Adams‐Oliver syndrome revisited
Authors: Whitley Chester B. , Gorlin Robert J. 
Published: June 2005

AbstractThe occurrence of Adams‐Oliver syndrome in a patient from the same geographic area as the first reported kindred led to follow‐up of the original family, and to a survey of the literature. Of 81 cases in 32 families, there is an approximately equal distribution between sexes (38 males: 43 females). Vertical transmission in at least 8 families is consistent with autosomal dominant inheritance. The phenotype is variable with a range of mild‐to‐severe defects of the scalp and/or underlying bone. Despite large defects of the cranium, central nervous system abnormalities have not been found and intellectual development appears to be normal. Limb defects are usually limited to the digits, but may involve the long bones and are entirely absent in some obligate carriers of the gene. Cutis marmorata and tortuous, dilated scalp veins have been reported in association with the major head and limb defects, but also in isolation as a forme fruste phenotype. Thus, there is a broad range of variable expression ranging from cases with lethally hemorrhagic cranial defects and/or severe limb malformations, to patients without any apparent manifestations. Despite a phenotypic resemblance to isolated aplasia cutis congenita and to the syndrome of terminal transverse limb defects, Adams‐Oliver syndrome appears to be causally distinct. While the underlying pathophysiologic mechanism remains unknown, it can be speculated that cranial vertex defects and malformations of the limbs represent field defects resulting from impaired circulation in “watershed” areas during a critical period of development.
Variable expression of vision in sibs with albinism
Authors: Summers C. Gail , Creel Donnell , Townsend Dewayne , King Richard A. 
Published: June 2005

AbstractOculocutaneous albinism is defined by the presence of cutaneous and ocular hypopigmentation, the latter associated with nystagmus, iris transillumination, reduced retinal pigment, foveal hypoplasia, and misrouting of the optic fibers at the chiasm. The visual acuity is variable but almost always reduced. We report on two brothers with oculocutaneous albinism and markedly different visual acuity. One brother has a visual acuity of 20/100, while the second has similar cutaneous pigmentation and visual acuity of 20/20 and had not previously been recognized as having oculocutaneous albinism. Both brothers have foveal hypoplasia and misrouting of the optic fibers at the chiasm. Biochemical analysis suggests that this is a tyrosinase‐related type of oculocutaneous albinism, This study demonstrates that careful observation of foveal development in relatives with normal vision is necessary to detect all individuals with albinism in a family. A suspected diagnosis of albinism may be confirmed when the visual‐evoked potentials show excessive decussation of the optic fibers at the chiasm.
Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α‐L‐fucosidase 2
Authors: Narahara Kouji , Tsuji Kazushiro , Yokoyama Yuji , Namba Hiroshi , Murakami Masae , Matsubara Tsunenori , Kasai Ryozo , Fukushima Yoshimitsu , Seki Takashi , Wakui Keiko , Seino Yoshiki 
Published: June 2005

AbstractGene‐dosage and in situ hybridization study of plasminogen (PLG) and α‐L‐fucosidase 2 (FUCA2) was performed on two patients with a small deletion of the distal long arm of chromosome 6, to define the structural abnormality more precisely. The results led to the cytogenetic diagnosis of an interstitial 6q deletion, del(6)(q25.1q25.3), in one patient and of a terminal 6q deletion resulting from a paternal t(1;6)(q44;q2605) translocation in the other patient. The latter patient had congenital noncommunicating hydrocephalus due to obstruction at the level of the foramen of Monro or the third ventricle which has not previously been described in terminal 6q deletions. Review of the literature suggests the emergence of a clinical syndrome associated with terminal 6q deletions.
Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy
Authors: Lupski James R. , Garcia Carlos A. , Zoghbi Huda Y. , Hoffman Eric P. , Fenwick Raymond G. 
Published: June 2005

AbstractIn 1990, Richards et al. reported dramatically skewed lyonization in a set of female monozygotic twins heterozygous for Duchenne muscular dystrophy (DMD). The skewed inactivation pattern was symmetrical in opposite directions, one twin being affected with DMD, the other one being normal. Here, we report an additional set of female monozygotic twins heterozygous for a mutation at the dystrophin locus. Similarly, one shows a manifesting carrier phenotype while one is normal. However, unlike the previous report, we find a skewed X inactivation pattern only in the affected twin, while the normal twin showed a random X inactivation pattern. Our results lend considerable experimental support for the models of twinning and X inactivation recently outlined by Nance in 1990, in that these twins probably represent asymmetric splitting of the inner cell mass (ICM): The affected twin likely arose when a small proportion of the ICM split off after lyonization had occurred. In this situation, the original ICM could give rise to the normal twin with random lyonization, while the newly split cells would experience catch‐up growth and lead to the affected twin. Genetic studies of this family showed that the specific dystrophin gene mutation was an exon duplication that arose sporadically in the paternally derived X chromosome.
Non‐random association between DNA markers and Huntington disease locus in the Italian population
Authors: Novelletto Andrea , Mandich Paola , Bellone Emilia , Malaspina Patrizia , Vivona Giuseppa , Ajmar Franco , Frontali Marina 
Published: June 2005

AbstractA group of Huntington disease (HD) families of Italian ancestry was analyzed for 11 RFLPs from genetic loci mapped in 4p16 and genetically linked to the HD gene. We found a statistically significant difference of allele distributions in HD vs normal chromosomes for loci D4S10, D4S127, and D4S43. This observation increases the number of loci in linkage disequilibrium with HD. However, the amount of disequilibrium does not allow either a finer localization of the HD gene or a substantial improvement in risk calculations.
DNA analysis in patients with lissencephaly type I and other cortical dysplasias
Authors: Oostra B. A. , de Rijk‐van Andel J. F. , Eussen H. J. , van Hemel J. O. , Halley D. J. J. , Niermeijer M. F. 
Published: June 2005

AbstractDNA markers YNZ22.1, YNH37.3, 144D6, and VAW508 were studied in five patients with the Miller‐Dieker syndrome, 17 patients with the isolated lissencephaly sequence, one patient with a non‐classified lissencephaly, and nine patients with an atypical cortical dysplasia. All patients had normal chromosomes except for a deletion 17p13.3 in one of the five Miller‐Dieker patients. The five Miller‐Dieker patients showed deletions of markers YNZ22.1 and YNH37.3 in contrast to the other patients tested. In one patient, the deletion was in the maternally contributed chromosome. Prenatal diagnosis by DNA analysis allowed exclusion of the recurrence of Miller‐Dieker syndrome in a subsequent pregnancy.
Presymptomatic testing for adult onset polycystic kidney disease in at‐risk kidney transplant donors
Authors: Hannig Vickie L. , Hopkins Jeanne R. , Johnson H. Keith , Phillips John A. , Reeders Stephen T. 
Published: June 2005

AbstractAutosomal dominant adult‐onset polycystic kidney disease (ADPKD) is estimated to have an incidence of 1/1,000 and accounts for approximately 10% of all end‐stage renal disease in the United States. While relatives are attractive as renal donors due to their availability and the improved transplant success associated with living‐related donors, they may coincidentally be at risk for ADPKD. Accurate presymptomatic testing for at‐risk potential donors is critical for both the donor and the recipient. We report here 2 families in which presymptomatic testing for ADPKD was accomplished by DNA linkage analysis on several potential renal donors prior to transplant. This resulted in the protection of both donors and recipients by preventing the transplantation of a kidney affected by ADPKD. Thorough counseling prior to DNA analysis (including discussion of accuracy and possible testing outcomes of presymptomatic diagnosis of ADPKD, diagnosis of noncarrier status, false paternity, and noninformative study) was essential to provide informed consent and preserve confidentiality within the family. Confidentiality for potential donors found presymptomatically to be affected (with a 94% or greater probability) was especially difficult to maintain.
Severe anomalies associated with ring chromosome 7
Authors: Biesecker Leslie G. , Cox Beth , Glover Thomas W. 
Published: June 2005

AbstractA newborn infant with the polyasplenia sequence, intrauterine growth retardation, cutaneous nevi, and minor anomalies was found to have mosaicism for ring chromosome 7. This patient's anomalies are markedly different from those of previous patients reported with this cytogenetic anomaly.
Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection
Authors: Engel Eric , DeLozier‐Blanchet C. Dawn 
Published: June 2005

AbstractThe concept of uniparental disomy—the presence of a chromosome pair derived solely from one parent in a diploid offspring—was introduced in 1980 as a probable consequence of the high rate of germ cell aneuploidy in man, and has now been convincingly demonstrated through molecular analyses in several families. A most likely mechanism for the production of uniparental disomy is the chance reunion, and complementation, of 2 gametes aneuploid for the same chromosome member; uniparental disomy could also occur through other mechanisms including postzygotic nonsegregation in a trisomic conceptus.Uniparental dlsomy may result in isodisomy, i.e., homozygosity of a series of contiguous alleles in a pair of homologues. The presence and degree of isodisomy in an offspring depend in turn on the occurrence, timing, and extent of the meiotic recombination that had occurred in the chromosome pair of the disomic gamete involved.Uniparental disomy with or without isodisomy can explain a number of unusual observations, such as the unexpected pattern of transmission of a genetic disorder. The two may be associated with an imprinting effect to produce pathological phenotypes, as has been observed in the mouse, and may be the basis for a number of syndromes of as yet unclear cause.The evidence for uniparental disomy, isodisomy, and imprinting in man is reviewed, and strategies for their detection presented.
Linkage of an Alzheimer disease susceptibility locus to markers on human chromosome 21
Authors: Heston Leonard L. , Orr Harry T. , Rich Stephen S. , White June A. 
Published: June 2005

AbstractWe assessed linkage between Alzheimer disease (AD) and restriction fragment length polymorphisms (RFLPs) from human chromosome 21 in 8 families selected because of multiple occurrences of AD and large size. Sib‐pair analysis demonstrated significant evidence for linkage between 2 markers (D21S1 and D21S11) and disease. Two markers, D21S13 and D21S52, did not yield evidence in favor of linkage to disease and a 5th, D21S16, was uninformative. The results confirm that a susceptibility locus for Alzheimer disease is located on chromosome 21. In contrast to other investigators who demonstrated linkage between AD and chromosome 21 loci, we found evidence in favor of linkage in both late‐ (greater than age 65) and earlyonset families.
Smith‐Fineman‐Myers syndrome in two brothers
Authors: Adès Lesley C. , Kerr Bronwyn , Turner Gillian , Wise Grahame 
Published: June 2005

AbstractWe report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith‐Fineman‐Myers syndrome. All 5 of the reported cases have been males, suggesting X‐linked inheritance.
Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty‐nine Japanese patients with urea cycle enzymopathies
Authors: Nagata N. , Matsuda I. , Matsuura T. , Oyanagi K. , Tada K. , Narisawa K. , Kitagawa T. , Sakiyama T. , Yamashita F. , Yoshino M. 
Published: June 2005

AbstractWe analyzed neurological data, including DQ or IQ, EEG, and CT scan, in 49 patients with urea cycle enzymopathies, all of whom were included in a retrospective survey from 1978–1988 in Japan. We classified 3 groups depending on age‐at‐onset: group 1 (0–28 days, N = 11), group 2 (29 days‐5 years, N = 31), and group 3 (>5 years, N = 7). The least DQ or IQ score and the highest CT score, representing the most severe brain damage was found in group 1, and the highest DQ or IQ and the least CT score was found in group 3. Intermediate scores of both parameters were found in group 2. There was a negative correlation between these 2 parameters (r = ‐ 0.82, P < 0.01). Abnormal EEG during the attack‐free period was predominantly observed in patients with CT abnormalities compared to those with a normal CT scan (P < 0.01). Approximately 40% of the patients, mostly in groups 2 and 3 (92.8%) had normal findings in all 3 parameters. Thus, the magnitude of developmental abnormalities is clearly related to the degree of brain damage and to the age‐at‐onset of these diseases.
Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities
Authors: Hurst J. A. , Baraitser M. , Wonke B. 
Published: June 2005

AbstractWe describe a mother and son with congenital hypoplastic anemia. The mother has apparently normal thumbs and forearms but her son has bilateral radial hypoplasia. They provide a further example of dominant inheritance of Diamond‐Blackfan anemia/Aase syndrome and suggest that thumb and radial abnormalities are a component of this syndrome.
“Snail‐like pelvis” chondrodysplasia: A further case report
Authors: Camera G. , Scarano G. , Tronci A. , La Cava G. , Mastroiacovo P. 
Published: June 2005

AbstractChondrodysplasia with snail‐like pelvis (Schnechenbecken dysplasia) is a rare distinct, lethal, short‐limbed dwarfism. We describe the clinical and radiological features of a new case in an Italian family.