bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting
Authors: Williams C. A. , Zori R. T. , Stone J. W. , Gray B. A. , Cantu E. S. , Ostrer H. 
Published: June 2005

AbstractSix persons with the classical Angelman syndrome (AS) phenotype and de novo deletions of chromosome 15q11‐q13 were studied to determine the parental origin of the chromosome deletion. Four of the 6 patients had informative cytogenetic studies and all demonstrated maternal inheritance of the deletion. These findings, together with other reported cases of the origin of the chromosome 15 deletion in AS, suggest that deletion of the maternally contributed chromosome leads to the AS phenotype. This contrasts with the Prader‐Willi syndrome (PWS) in which a similar deletion of the paternally contributed chromosome 15 is observed. In deletion cases, a parental gamete effect such as genomic imprinting may be the best model to explain why apparently identical 15q11‐q13 deletions may develop the different phenotypes of AS or PWS.
Segregation distortion in inheritance of progressive rod cone degeneration (prcd) in Miniature Poodle dogs
Authors: Acland Gregory M. , Halloran‐Blanton Susan , Boughman Joann A. , Aguirre Gustavo D. 
Published: June 2005

AbstractSegregation distortion was observed in inheritance of progressive rod–cone degeneration (prcd) in a colony of Miniature Poodle dogs. Breeding results, from both retrospective records and prospectively planned matings, were classified into five mating types: (1) affected to affected, (2) homozygous normal sire to any dam, (3) heterozygous to heterozygous, (4) heterozygous sire to affected dam, and (5) affected sire to heterozygous dam. For all but the last category, results were in accord with mendelian expectations for autosomal‐recessive inheritance. However, litters of mating type 5 had fewer affected pups (20/77) than expected. The observed segregation ratio for this mating type (0.26) was significantly (P<0.001) less than the expected (0.50). The segregation distortion could not be accounted for by either pre‐ or postnatal loss of affected pups, as litter size and litter survivability were uniform among litters of different mating types. Either the prcd locus, or a linked locus, would appear to influence either gametic or zygotic fitness in the heterozygous mother. Comparison is drawn to the inheritance of retinitis pigmentosa in humans, in which decreased segregation ratios are also recognized.
Adenine nucleotides, serotonin, and aggregation properties of platelets of blue foxes (Alopex lagopus) with the Chediak‐Higashi syndrome
Authors: Sjaastad Øystein V. , Blom Anne K. , Stormorken Helge , Nes Norodd 
Published: June 2005

AbstractBleeding times, concentrations of serotonin in whole blood, and concentrations of adenine nucleotides as well as aggregation properties of platelets were examined in 18 blue foxes with Chediak‐Higashi–like syndrome (CHS) and 16 controls. A claw of each ketamine‐sedated fox was cut until bleeding started and the bleeding time was recorded as the time from the first to the last drop. The bleeding time was greatly increased in CHS foxes. Platelet counts of CHS foxes were normal, but aggregation induced by adenosine diphosphate (ADP), serotonin, collagen, and arachidonate was impaired. Adrenaline and serotonin potentiated the aggregatory effect of ADP on control as well as on CHS platelets. The mean concentration of ADP in CHS platelets was about one‐third that in controls, whereas adenosine triphosphate (ATP) was approximately one‐half that in controls. Serotonin could not, in most cases, be detected in blood of CHS foxes. These findings suggest that the prolonged bleeding time in the CHS foxes is, at least partly, due to a storage pool deficiency. The drastically reduced, and in some cases absent, aggregation of CHS platelets in response to arachidonate suggests that defective arachidonate metabolism contributes to the impaired hemostasis.
Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non‐rachitic bone changes: Apparently new syndrome?
Authors: Chitayat David , McGillivray Barbara C. , Rothstein Ralph , Flodmark Olof , Priddy Robert W. , Ebelt Volker J. , Lirenman David S. , Hall Judith G. 
Published: June 2005

AbstractWe report on two brothers with renal hypophosphatemia, intracerebral calcifications, minor facial anomalies, and short distal phalanges. The children presented with recurrent dental abscesses; one had premature closure of the anterior fontanelle. Biochemical findings included hypophosphatemia and elevated serum alkaline phosphatase with normocalcemia. Blood levels of parathyroid hormone, 1,25(OH)2 and 25(OH) vitamin D levels were normal; TRP (the fractional tubular reabsorption of PO4) and TmP/GFR (the tubular maximum rate of PO4 reabsorption in relation to GFR) were low. Both parents had a normal serum phosphate and brain CT scan without evidence of calcifications.This apparently new syndrome of renal hypophosphatemia associated with intracerebral calcifications appears to be inherited as either an autosomal recessive or an X‐linked trait.
Myelodysplasia and leukemia syndrome with monosomy 7: A genetic perspective
Authors: Gilchrist D. M. , Friedman J. M. , Rogers P. C. J. , Creighton S. P. 
Published: June 2005

AbstractAcquired monosomy 7 is a frequent finding in myelodysplastic syndromes, including acute myelogenous leukemia. A subset of these patients has been described with an apparently distinct condition: myelodysplasia and leukemia syndrome with monosomy 7 (MLSM7). We report 2 brothers, 3 and 5 years of age, with MLSM7 and review other reports of familial occurrence. Genetic factors appear to be important in the cause of MLSM7, but the reported families do not fit neatly into any monogenic pattern. Recognition of the frequently familial nature of this condition requires hematological evaluation and genetic counseling for the families of patients with MLSM7.
Severe postaxial acrofacial dysostosis: An anatomic and angiographic study
Authors: Rodríguez José Ignacio , Palacios José 
Published: June 2005

AbstractWe describe a severe case of postaxial acrofacial dysostosis syndrome [POADS] or Geneée‐Wiedemann syndrome in a stillborn female. The report includes an arteriographic and anatomic study of the limbs. Previously unreported findings such as hypoplasia of the femora, ossification defect of the ischium and pubis, bilobed tongue, and lung hypoplasia were noted. This case documents further variability in the POADS or Genée‐Wiedemann syndrome.
Mosaicism in Pallister i(12p) syndrome
Authors: Wenger Sharon L. , Boone Leslie Y. , Steele Mark W. 
Published: June 2005

AbstractThe clinical diagnosis of Pallister syndrome in a 1‐day‐old white boy was confirmed by the presence of i(12p) in 100% of cells on direct bone marrow analysis. This is the second Pallister syndrome case in which cytogenetic diagnosis was made in bone marrow cells during the neonatal period. Other tissues analyzed in our patient included peripheral blood PHA‐stimulated cultured lymphocytes and postmortem skin and lung cultured fibroblasts with 3%, 98.5%, and 97.5% of cells containing the i(12p), respectively. Serial skin fibroblast cultures re‐established from frozen cells were analyzed sequentially over time for the isochromosome. There was slight reduction in the proportion of i(12p) cells until passage 15 with plateauing of the proportion of i(12p) cells at about 80% until culture senescence. Our review of such cytogenetic analyses suggests that in vivo and perhaps also in vitro isochromosome loss best explains the intra‐ and inter‐tissue specific chromosomal mosaicism in the i(12p) syndrome. In any event, our results indicate that confirmation of the diagnosis in the neonatal period is possible by direct cytogenetic analysis of bone marrow.
De novo inverted interstitial (“mirror”) duplication of chromosome 8(q13→q24.1) in a liveborn male
Authors: Donnenfeld Alan E. , Coyne Michael D. , Beauregard Laurent J. 
Published: June 2005

AbstractWe report on a newborn boy with a de novo inverted interstitial duplication of chromosome 8(q13→q24.1). This form of cytogenetic abnormality, in which a mirror image interstitial duplication has occurred, is exceedingly rare. Review of the literature and mechanisms to explain the origin of this type of chromosome aberration are presented. A review of the findings from individuals with partial dup(8q) demonstrate remarkable similarity to the infant we describe.
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
Authors: Legius Eric , Fryns Jean‐Pierre , Eyskens Benedict , Eggermont Ephren , Desmet Valeer , de Bethune Guy , Van den Berghe Herman 
Published: June 2005

AbstractWe report on a boy with Alagille syndrome. Chromosome analysis on a peripheral blood lymphocyte culture showed a de novo deletion of the short arm of chromosome 20 with a 46,XY,del(20)(p11.2) chromosome constitution. This is the second report of a del(20p) in a patient with Alagille syndrome. The possible localisation of this autosomal dominant syndrome on 20p is discussed.
Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings
Authors: Przedborski Serge , Ferster Alina , Goldman Sylvie , Wolter Renée , Song Micheline , Tonnesen Tonne , Pollitt Rodney J. , Vamos Esther 
Published: June 2005

AbstractThree sibs, a boy and two girls, born to Moroccan consanguineous parents, were affected with a syndrome characterized by brittle hair, mental retardation, short stature, ataxia, and gonadal dysfunction. The hair in these three patients displayed the morphological and biochemical hallmarks of trichothiodystrophy (TTD). Gonadal function tests showed abnormal gonadotropic responses to LHRH, consistent with delayed puberty in the male and ovarian failure in both females. Comparison with previously reported cases of TTD associated with mental retardation suggests genetic heterogeneity, although specific biochemical markers are needed in order to answer this question.
Distal phalangeal hypoplasia in children with prenatal phenytoin exposure: Results of a controlled anthropometric study
Authors: Gaily Eija 
Published: June 2005

AbstractPhalangeal and metacarpal bone length was measured from hand radiographs in 111 children of epileptic mothers and 96 control children of nonepileptic mothers. Seventy‐six children of the study group had been exposed to phenytoin in the first 20 weeks of pregnancy, 21 had been exposed to other antiepileptic drugs excluding phenytoin, and 14 had not been exposed. Distal phalangeal lengths were significantly reduced in phenytoin‐exposed children. The second and fifth digits were most affected. Phenytoin exposure was associated with a significantly elevated prevalence (11%) of radiologically defined distal phalangeal hypoplasia. The subgroup of children exposed to phenytoin levels over 40 μmol/I showed more prominent effects than did the subgroup exposed to lower or unknown concentrations. These results confirm that early fetal exposure to phenytoin decreases distal phalangeal size, as suggested by several previous studies relying on clinical examination only. Distal phalangeal hypoplasia was not accompanied by other serious abnormalities.
Comparison of direct and indirect methods of carrier detection in an X‐linked disease
Authors: Koeberl Dwight D. , Bottema Cynthia D. K. , Sommer Steve S. 
Published: June 2005

AbstractFor a severe X‐linked disease such as hemophilia B, unrelated patients generally will have different mutations. Restriction fragment length polymorphisms (RFLPs) have been used to perform carrier testing in an indirect manner by following the segregation of the disease allele through the pedigree. However, this approach requires family participation and suffers from multiple levels of uncertainty. We have applied the direct sequencing technique of genomic amplification with transcript sequencing (GAWTS) to direct carrier testing. Here we compare direct and RFLP‐based testing in two families with hemophilia B. A total of 22 at‐risk females was diagnosed by direct testing, whereas only 11 females could be diagnosed by standard RFLP analysis. The superior accuracy and greater conceptual simplicity of direct testing is demonstrated and some commonly overlooked uncertaintics in RFLP analysis are highlighted.
Apparently nonmosaic trisomy 22: Clinical report and review
Authors: Sundareshan T. S. , Naguib K. K. , Al‐Awadi S. A. , Redha M. A. , Hamoud M. S. 
Published: June 2005

AbstractWe report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti‐mongoloid slant; apparently low‐set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.
The UCLA–university of Utah epidemiologic survey of autism: Genealogical analysis of familial aggregation
Authors: Jorde L. B. , Mason‐Brothers A. , Waldmann R. , Ritvo E. R. , Freeman B. J. , Pingree C. , McMahon W. M. , Petersen B. , Jenson W. R. , Mo A. 
Published: June 2005

AbstractTo assess familial aggregation of autism, 86 autistic subjects were linked to the Utah Genealogical Database. Kinship coefficients were estimated for all possible pairs of autistic subjects and then averaged. Fifty replicate sets of matched control subjects (86 members in each set) were drawn randomly from the database, and the average kinship coefficient was computed for all possible pairs of individuals in each set. The average kinship coefficient for the autistic subjects was approximately 1/1,000, while the average kinship coefficients for the 50 control groups ranged from 4/100,000 to 1.6./10,000. These results indicate a strong tendency for autism to cluster in families. When kinship was analyzed by specific degrees of relationship, it was shown that the familial aggregation of autism is confined exclusively to sib pairs and does not extend to more remote degrees of relationship. This finding indicates that a single‐gene model is unlikely to account for most cases of autism.
Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha‐fetoprotein and oligohydramnios
Authors: Johnson Mark Paul , Greb Anne , Goyert Gregory , Drugan Arie , Qureshi Faisal , Sacks Alan J. , Evans Mark I. 
Published: June 2005

AbstractWe present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20‐year‐old woman referred for genetic counseling because of a low maternal serum alphafetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter→q13:: q12→qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha‐fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.
Evidence for a major gene in familial anencephaly
Authors: Shaffer Lisa G. , Marazita Mary L. , Bodurtha Joann , Newlin Anna , Nance Walter E. 
Published: June 2005

AbstractA 21‐year‐old white woman sought counseling after the birth of two consecutive anencephalic male fetuses with complete rachischisis and discordant renal dysplasia. The presence of parental consanguinity prompted reconsideration of recessive inheritance. The segregation ratio from 23 additional consanguineous cases was compared with that observed in 294 presumably nonconsanguineous families previously reported. Using classical segregation analysis, the segregation ratios in the non‐sporadic cases were consistent with a major autosomal recessive locus in both populations.
Neonatal‐onset panhypopituitarism in a girl with Brachmann‐De Lange syndrome
Authors: Tonini G. , Marinoni S. 
Published: June 2005

AbstractWe report on a girl with recurrent hypoglycemia since age 2 days and severe impairment of physical and neurological development. Panhypopituitarism was recognized at age 5 months. The diagnosis of Brachmann‐De Lange syndrome (BDLS) was also made. Replacement therapy has avoided further episodes of hypoglycemia, improved growth, and allowed partial psychomotor catch‐up.Though we are not aware of any other report of panhypopituitarism in patients with BDLS, we suggest that hormonal derangement may play a role in the manifestations of this syndrome.
The thoracoabdominal syndrome (TAS): A new X‐linked dominant disorder
Authors: Carmi R. , Barbash A. , Mares A. J. 
Published: June 2005

AbstractWe report on a family with a previously undescribed malformation syndrome. The syndrome is composed of diaphragmatic and ventral herniae, hypoplastic lung, and associated cardiac anomalies. The relative number of affected males and females and appreciably severer manifestations in males suggest an X‐linked dominant inheritance.
Another model for the inheritance of Rett syndrome
Authors: Bühler Erica M. , Malik Naseem J. , Alkan Muallâ 
Published: June 2005

AbstractThe fact that probably less than 1% of Rett syndrome cases are familial speaks in favor of a spontaneous mutation as the most common cause of Rett syndrome. However, the few familial cases (about 10) described in the literature, the elevated consanguinity rate in parents of Rett patients (2.4% vs. 0.5%), and the existence of “formes frustes” in relatives of Rett girls, suggest that inheritance must exist. A model based on a hypothetical form of inheritance, namely allelic and non‐allelic metabolic interference, fits almost all available data, as well as the exclusive occurrence in females without increased abortion rate.
Tetrasomy 18p in a child with trisomy 18 phenotype
Authors: Singer T. S. , Kohn G. , Yatziv S. 
Published: June 2005

AbstractWe report on a patient with trisomy 18 syndrome and tetrasomy 18p. The case indicates that the presence of an isochromosome i(18p) can mimic complete trisomy 18 syndrome.
A visual interface to computer programs for linkage analysis
Authors: Chapman Cyril J. 
Published: June 2005

AbstractThis paper describes a visual approach to the input of information about human families into computer data bases, making use of the GEM graphic interface on the Atari ST. Similar approaches could be used on the Apple Macintosh or on the IBM PC AT (to which it has been transferred). For occasional users of pedigree analysis programs, this approach has considerable advantages in ease of use and accessibility. An example of such use might be the analysis of risk in families with Huntington disease using linked RFLPs. However, graphic interfaces do make much greater demands on the programmers of these systems.
Interrupted aortic arch type B1 in a brother and sister: Suggestion of a recessive gene
Authors: Pankau Rainer , Funda Johannes , Wessel Armin 
Published: June 2005

AbstractWe report on the occurrence of an identical form of interrupted aortic arch and ventricular septal defect in a brother and sister whose parents are not consanguineous. The first child died on the 7th day of life without surgery 3 years ago; the second underwent surgical correction on the 5th day of life and is doing well.
Analysis Of cultured chorionic villi in a case of osteogenesis imperfecta type II: Implications for prenatal diagnosis
Authors: Grange Dorothy K. , Lewis Mary Beth , Marini Joan C. 
Published: June 2005

AbstractWe examined collagens produced by cultured cells from skin, chorionic villi, and placental membranes of a 32 week fetus with osteogenesis imperfecta (OI) type II. We observed that skin fibroblasts synthesized two populations of pro∝︁I(I) chains of type I procollagen; one population was normal, while the other population had excessive post‐translational modification. The thermal stability of helices containing the overmodified chains was reduced 1‐2°C. Most significantly, the cells cultured from chorionic villi produced type I collagen chains with the same electrophoretic abnormalities as the skin collagen. This suggests that chorionic villus sampling (CVS) is a means of prenatal diagnosis for families with a previous type II or type IV OI infant.
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome
Authors: Whyte Michael P. , Petersen Deborah J. , McAlister William H. 
Published: June 2005

AbstractWe describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.
Percent transferrin saturation in segregating hemochromatosis
Authors: Borecki I. B. , Rao D. C. , Yaouanq J. , Lalouel J. M. 
Published: June 2005

AbstractThe segregation of genetic hemochromatosis was analyzed by using percent transferrin saturation (TS) as a phenotypic marker of the disease. Homozygotes for the disease were readily discernable with the added information provided by the quantitative indicator. However, there was no evidence of partial expression of TS abnormalities in heterozygotes, contrary to previous studies.
Chediak‐Higashi syndrome in the cat: Prenatal diagnosis by evaluation of amniotic fluid cells
Authors: Kahraman M. Müfit , Prieur David J. 
Published: June 2005

AbstractChediak‐Higashi syndrome (CHS) is an autosomal recessive disease in humans, cats, and 8 other species. The homology of CHS in humans and cats has been demonstrated. Since human CHS is a progressive, serious, and eventually fatal disease, a method for prenatal diagnosis would be desirable. This study was designed to determine whether CHS could be diagnosed prenatally by examination of amniotic fluid cells. The amniotic fluid samples were obtained from CHS and control cat fetuses on the 45th day of gestation and cultures of cells were established. Because the underlying enzyme deficiency in CHS has not been identified, it was necessary to use a secondary manifestation of the syndrome in these studies. The secondary manifestation used was the characteristic enlargement of lysosomes associated with the disease. The lysosomes of these cells were stained by acid phosphatase histochemistry and the diameter of the largest lysosome in each cell was measured by light microscopy with a calibrated ocular micrometer. The diameters of the largest lysosomes in cells of normal fetuses ranged from 0.5 to 7.0 μm (means ranged from 0.9 to 1.8 μm), whereas the diameter of the largest lysosomes in the cells of CHS fetuses ranged from 0.5 to 30 μm (means ranged from 6.4 to 12.8 μm). The approximate t‐test for independent samples with unequal variances disclosed that the largest acid phosphatase‐positive lysosomes in amniotic fluid cells of CHS cat fetuses were significantly larger than the lysosomes in the cells of normal cat fetuses (P < 0.0001). This information should, by extrapolation, provide the basis for the prenatal diagnosis of human CHS by amniocentesis.
Proximal interstitial deletion of 7q: A case report and review of the literature
Authors: Zackowski Joleen L. , Raffel Leslie J. , Blank Carol A. , Schwartz Stuart 
Published: June 2005

AbstractA male infant with multiple congenital anomalies was found to have a deletion of 7q [46, XY, del(7)(pter→q11.2::q22→qter)]. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7) (9pter→ 9p12::7q22→ 7q11.2::9p12→ 9qter;7pter→ 7q11.2::7q22→ 7qter). C‐banding showed that the rearrangement occurred as a new event in the paternal grandfather's germ‐line.Including the present patient, 16 cases of proximal 7q deletion (q11→q21/q22) have been described to date. This is a sufficient number of cases to permit comparison of manifestations to attempt delineation of karyotype‐phenotype relationships in different proximal interstitial deletions of 7q.