bluuebunny/crossref_metadata_2025_split huggingface dataset:
Physical findings in 21q22 deletion suggest critical region for 21q— phenotype in q22
Authors: Theodoropoulos Demetrios S. , Cowan Janet M. , Elias Ellen R. , Cole Cynthia 
Published: June 2005

AbstractMultiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1→qter. The phenotype of this infant was similar to that previously described in infants with deletions spanning the long arm of chromosome 21, from the centromere to 21q22 [Rethoré et al., 1972, Exp Cell Res 70:455–456, 1973, Ann Genet (Paris) 16:271–275]. However, as a phenotypically normal child with normal intelligence and with deletion of 21q11.1–21q21.3 has also been identified [Korenberg et al., 1991, Hum Genet 87:112–118], this case suggests that the critical region of deletion for the 21q− phenotype lies distal to 21q21, within 21q22.1–22.2. © 1995 Wiley‐Liss, Inc.
X‐linked myotubular myopathy: Clinical observations in ten additional cases
Authors: Joseph Maries , Pai G. Shashidhar , Holden Kenton R. , Herman Gail 
Published: June 2005

AbstractX‐linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies have localized the disorder to the Xq28 region, close to the loci for X‐linked hydrocephalus and MASA syndrome. We report on 10 additional cases of XLMTM from six different families. In addition to classic clinical features of XLMTM, our patients showed interesting associated findings which included birth length >90th centile and large head circumference with or without hydrocephalus in 70%, narrow, elongated face in 80%, and slender, long digits in 60% of cases. There was concordance in the occurrence and severity of hydrocephalus in most sib pairs. These features in a “floppy” male infant serve as clues for early clinical diagnosis of XLMTM, which can then be confirmed by muscle biopsy. Development of polyhydramnios was observed in the third trimester of an at‐risk dizygotic twin gestation monitored by serial sonography with confirmation of XLMTM at birth. © 1995 Wiley‐Liss, Inc.
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia
Authors: Rogan Peter K. , Close Pamelyn , Blouin Jean‐Louis , Seip James R. , Gannutz Lee , Ladda Roger L. , Antonarakis Stylianos E. 
Published: June 2005

AbstractAcute leukemia in Down syndrome (DS) is often associated with additional changes in the number or structure of chromosome 21. We present two DS patients whose leukemic karyotypes were associated with changes in chromosome 21 ploidy. Patient 1 developed acute lymphocytic leukemia (type L1); disomy for chromosome 21 was evident in all blast cells examined. Loss of the paternal chromosome in the leukemic clone produced maternal uniparental disomy with isodisomy over a 25‐cM interval. The second patient had acute monoblastic leukemia (type M5) with tetrasomy 21 in all leukemic cells. DNA polymorphism analysis showed duplicate paternal chromosomes in the constitutional genotype. The maternal chromosome was subsequently duplicated in the leukemic clone. The distinct inheritance patterns of chromosome 21 in the blast cells of these patients would appear to indicate that leukemogenesis occurred by different genetic mechanisms in each individual. © 1995 Wiley‐Liss, Inc.
Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X‐linked agammaglobulinemia reveals three female carriers
Authors: Hagemann Tracy L. , Assa'ad Amal H. , Kwan Sau‐Ping 
Published: June 2005

AbstractBruton's tyrosine kinase (Btk) has been identified as the protein responsible for the primary immunodeficiency X‐linked agammaglobulinemia (XLA). We and others have cloned the gene for Btk and recently reported the genomic organization. Nineteen exons were positioned within the 37 kb gene. With the sequence data derived from our genomic map, we have designed a PCR based assay to directly identify mutations of the Btk gene in germline DNA of patients with XLA. In this report, the assay was used to analyze a family with a sporadic case of XLA to determine if other female relatives carry the disease. A four base‐pair deletion was found in the DNA of the affected boy and was further traced through three generations. With the direct identification of the mutations responsible for XLA, we can now diagnose conclusively the disease and identify the immunologically normal female carriers. This same technique can easily be applied to prenatal diagnosis in families where the mutation can be identified. © 1995 Wiley‐Liss, Inc.
Two craniosynostotic patients with 11q deletions, and review of 48 cases
Authors: Lewanda Amy Feldman , Morsey Susan , Reid Cheryl S. , Jabs Ethylin Wang 
Published: June 2005

AbstractMany chromosomal abnormalities have craniofacial manifestations. One such abnormality, partial monosomy of chromosome 11q, is associated with metopic synostosis and resultant trigonocephaly. We reviewed 48 published cases of 11q deletions and translocations. Eighty percent were associated with abnormal head shape. Also commonly found were hypertelorism, ptosis of the eyelids, wide or low nasal bridge, apparently low‐set malformed ears, down‐turned mouth, micro/retrognathia, digital and cardiac anomalies, and psychomotor retardation. We report on two patients referred for abnormal head shape. The first case had brachycephaly, flat occiput, hypertelorism, and maxillary hypoplasia. Karyotype was 46,XY,del(11)(q24.1→qter). The second patient had trigonocephaly, hypotelorism, posteriorly angulated ears, horizontal crease below his lower lip, syndactyly, shawl scrotum, cryptorchidism, and inguinal hernias. Karyotype showed partial trisomy of chromosome 4q as well as partial monosomy of 11q [46,XY,11,+der(11)t(4;11)(q31.3;q25)], a combination not previously reported. Deletions of 11q appear to produce a wide spectrum of abnormalities. © 1995 Wiley‐Liss, Inc.
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis
Authors: Kobayashi Megumi , Kaplan Bernard S. , Bellah Richard D. , Sartore Maria , Rappaport Eric , Steele Mark W. , Mansfield Elaine , Gasparini Paolo , Surrey Saul , Fortina Paolo 
Published: June 2005

AbstractCongenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three‐generation kindred of a spectrum of kidney anomalies consistent with an autosomal‐dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grand‐mother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband's mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3′‐HVR, GGG1, GGG9, SM‐7, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD‐1) and tuberous sclerosis (TSC‐2) loci on chromosome 16p was evaluated by Southern blot studies and by PCR‐based, fluorescent geno‐typing for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half‐sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal‐dominant mode of transmission with variable expression and incomplete penetrance. © 1995 Wiley‐Liss, Inc.
Familial microtia with meatal atresia and conductive deafness in five generations
Authors: Gupta Ajay , Patton Michael A. 
Published: June 2005

AbstractWe describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern and clinical spectrum noted in this rare syndrome so far. The family is unique because the set of otologic anomalies in five generations was associated with renal cysts in one of the affected members, suggesting that this oto‐renal (OR) syndrome may represent a variable expression of the branchio‐oto‐renal (BOR) syndrome. However, the probability is that this dominant malformation syndrome is a distinct entity. © 1995 Wiley‐Liss, Inc.
Cardiac abnormalities in the Rubinstein‐Taybi syndrome
Authors: Stevens Cathy A. , Bhakta Manoo G. 
Published: June 2005

AbstractIn order to evaluate the incidence of cardiac anomalies, type of cardiac defects, and their impact in the Rubinstein‐Taybi syndrome (RTS), a questionnaire study was done. Fortyfive of 138 patients in the study (32.6%) had a known cardiac abnormality; 27 patients had single defects including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, pulmonic stenosis, or bicuspid aortic valve. Eight of these individuals had spontaneous resolution of their problems, while 8 required surgery. Sixteen patients had complex congenital heart defects or two or more abnormalities. Two patients had spontaneous resolution, while 7 required surgery. Surgery is planned in 5 additional patients. Five patients had conduction abnormalities. Individuals with congenital heart defects did not have a higher incidence of other birth defects. The significant incidence and potential severity of cardiac anomalies in our patients suggest that a cardiac evaluation should be strongly considered in patients with RTS. © 1995 Wiley‐Liss, Inc.
Goldenhar sequence and mosaic trisomy 22
Authors: Pridjian Gabriella , Gill William L. , Shapira Emmanuel 
Published: June 2005

AbstractWe describe a term infant with facioauriculo‐vertebral “dysplasia” (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, +22 (72%/28%); skin fibroblasts, 47, XY, +22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a live‐born infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well. © 1995 Wiley‐Liss, Inc.
Miller‐Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)
Authors: Masuno Mitsuo , Imaizumi Kiyoshi , Nakamura Mihoko , Matsui Kiyoshi , Goto Akiko , Kuroki Yoshikazu 
Published: June 2005

AbstractWe report on a 3‐month‐old girl with Miller‐Dieker syndrome resulting from a maternal full‐cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller‐Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. © 1995 Wiley‐Liss, Inc.
Association of anophthalmia and esophageal atresia
Authors: Sandler Daniel , Mancuso Anthony , Becker Troy , Zori Roberto , Hellrung John , Silverstein Janet , Burton Valerie , Hamosh Ada , Williams Charles 
Published: June 2005

AbstractWe report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other had generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a developmental field. Concurrence of these defects appears to be non‐random. © 1995 Wiley‐Liss, Inc.
Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?
Authors: Eggers Sabine , Lauriano Valèria , Melo Marcio , Takata Reinaldo Issao , Akiyama Jeanne , Passos‐Bueno Maria Rita , Gentil Valentim , Frota‐Pessoa Oswaldo , Zatz Mayana 
Published: June 2005

AbstractWe had previously reported that patients affected with BMD have a significantly reduced reproductive performance (f = 0.12) as compared to male LGMD patients of similar age and physical impairment (f = 0.98). In the present study parameters such as the socio‐economic level, as well as psycho‐social, intellectual, and psychiatric functionings could not explain the low fitness of BMD patients. The effect of genetic counseling, a greater difficulty in coping with the disease, and relating to women and/or a potential malfunction of reproductive physiology are discussed as possible causes. © 1995 Wiley‐Liss, Inc.
Chromosomal abnormalities in a psychiatric population
Authors: Lewis Karen E. , Lubetsky Martin J. , Wenger Sharon L. , Steele Mark W. 
Published: June 2005

AbstractOver a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. © 1995 Wiley‐Liss, Inc.
Linkage studies on chromosome 22 in familial schizophrenia
Authors: Vallada Homero P. , Gill Michael , Sham Pak , Lim Lionel C. C. , Nanko Shin , Asherson Philip , Murray Robin M. , McGuffin Peter , Owen Michael , Collier David 
Published: June 2005

AbstractAs part of a systematic search for a major genetic locus for schizophrenia we have examined chromosome 22 using 14 highly polymorphic markers in 23 disease pedigrees. The markers were distributed at an average distance of 6.6 cM, covering 70–80% of the chromosome. We analyzed the data by the lod score method using five plausible genetic models ranging from dominant to recessive, after testing the power of our sample under the same genetic parameters. The most positive lod score found was 1.51 under a recessive model for the marker D22S278, which is insufficient to conclude linkage. However, an excess of shared alleles in affected siblings (P < .01) was found for both D22S278 and D22S283. For D22S278, the A statistic was equal to the lod score (1.51) and therefore did not provide additional evidence for linkage allowing for heterogeneity, but the Liang statistic was more significant (P = .002). Our results suggest the possibility that the region around D22S278 and D22S283 contains a gene which contributes to the aetiology of schizophrenia. © 1995 Wiley‐Liss, Inc.
Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3
Authors: Michelini Stefano , Urbanek Margrit , Dean Michael , Goldman David 
Published: June 2005

AbstractCentrally administered oxytocin has been reported to facilitate affiliative and social behaviours, in functional harmony with its well‐known peripheral effects on uterine contraction and milk ejection. The biological effects of oxytocin could be perturbed by mutations occurring in the sequence of the oxytocin receptor gene, and it would be of interest to establish the position of this gene on the human linkage map. Therefore we identified a polymorphism at the human oxytocin receptor gene. A portion of the 3′ untranslated region containing a 30 bp CA repeat was amplified by polymerase chain reaction (PCR), revealing a polymorphism with two alleles occurring with frequencies of 0.77 and 0.23 in a sample of Caucasian CEPH parents (n = 70). The CA repeat polymorphism we detected was used to map the the human oxytocin receptor to chromosome 3p25‐3p26, in a region which contains several important genes, including loci for Von Hippel‐Lindau disease (VHL) and renal cell carcinoma. © 1995 Wiley‐Liss, Inc.
Possible association between the dopamine D3 receptor gene and bipolar affective disorder
Authors: Parsian Abbas , Chakraverty Sumitra , Todd Richard D. 
Published: June 2005

AbstractA variety of studies have reported possible genetic associations between bipolar affective disorder and different loci using relative risk (case‐control) comparisons. An alternative approach is to construct a contrast group using parental alleles which were not transmitted to an affected individual [Falk and Rubinstein, 1987: Ann Hum Genet 51:227–233]. We have used both approaches to test for possible associations between alleles of the dopamine D3 receptor gene and bipolar affective disorder. For relative risk studies, the probands of multiple incidence bipolar affective disorder families have been compared to alcoholic and psychiatrically normal contrast groups. Non‐transmitted allele approaches have used bipolar affective disorder and alcoholic probands in which both parents were available for genotyping. Using the BalI restriction enzyme site polymorphism of Lannfelt et al. [1992: Psychiatr Genet 2:249–256], we have found no differences in the allele or genotype frequencies for bipolar vs. alcoholic or psychiatrically normal controls. In contrast, we have found evidence for an increased frequency of allele 1 and allele 1 containing genotypes in transmitted alleles from bipolar families. © 1995 Wiley‐Liss, Inc.
Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes
Authors: Pulver Ann E. , Lasseter Virginia K. , Kasch Laura , Wolyniec Paula , Nestadt Gerald , Blouin Jean‐Louis , Kimberland Michelle , Babb Robert , Vourlis Sophia , Chen Haiming , Lalioti Maria , Morris Michael A. , Karayiorgou Maria , Ott Jurg , Meyers Deborah , Antonarakis Stylianos E. , Housman David , Kazazian Haig H. 
Published: June 2005

AbstractUsing a systematically ascertained sample of 57 families, each having 2 or more members with a consensus diagnosis of schizophrenia (DSM‐III‐R criteria), we have carried out linkage studies of 520 loci, covering approximately 70% of the genome for susceptibility loci for schizophrenia. A two‐stage strategy based on lod score thresholds from simulation studies of our sample identified regions for further exploration. In each region, a dense map of highly informative dinucleotide repeat polymorphisms (heterozygosity greater than .70) was analyzed using dominant, recessive, and “affected only” models and nonparametric sib pair identity‐by‐descent methods. For one region, 8p22‐p21, affected sib‐pair analyses gave a P value = .0001, corresponding to a lod score approximately equal to 3.00. For 8p22–p21, the maximum two‐point lod score occurred using the “affected only” recessive model (ZMAX = 2.35; θM = θF); allowing for a constant sex difference in recombination fractions found in reference pedigrees, ZMAX = 2.78 (θM/θF = 3). For a second region, 3p26–p24, the maximum two‐point lod score was 2.34 (“affected only” dominant model), and the affected sib‐pair P value was .01. These two regions are worthy of further exploration as potential sites of susceptibility genes for schizophrenia. © 1995 Wiley‐Liss, Inc.
Fragile X syndrome: Discordant levels of CGG repeat mosaicism in two brothers
Authors: Mueller O. Thomas , Hartsfield James K. , Amar Marcelo J. A. , Gallardo Loretta A. , Kousseff Boris G. 
Published: June 2005

AbstractFragile X syndrome is associated with an unstable repeated CGG trinucleotide sequence in the 5′ untranslated region of the FMR‐1 gene. A significant number of individuals with a mild or atypical presentation are mosaics for the CGG expansion. We report a family with two brothers. The proband had severe mental retardation as well as most of the Fragile X syndrome stigmata, whereas his brother shows only mild learning difficulties. Both inherited a 80 × CGG trinucleotide premutation from the mother. They were negative for the FRAXA fragile site in over 100 metaphases examined. Flanking markers verified that both had inherited the same FMR‐1 allele and Xq27‐q28 flanking sequences from the mother. The methylation status of the brothers indicated active FMR‐1 transcription as determined by using StB12.3/EcoRI + Eagl blots. CGG size or methylation mosaicism was not apparent from Southern blots. Polymerase chain reaction and chemiluminescent detection identified that both brothers had different degrees of mosaicism for the CGG expansion. Large expansions amounting to 70% of the total were visible in the proband, whereas less than 5% of the signal was larger than the premutation in his mildly affected brother. These findings suggest that mosaicism may be responsible for some of the variation in penetrance in this disorder. © 1995 Wiley‐Liss, Inc.
SCA2 is not a major locus for ADCA type I in French families
Authors: Cancel Géraldine , Stevanin Giovanni , Dürr Alexandra , Chneiweiss Hervé , Penet Christiane , Pothin Yolaine , Agid Yves , Brice Alexis 
Published: June 2005

AbstractAutosomal dominant cerebellar ataxias (ADCA) of type I, a group of clinically heterogeneous neurodegenerative disorders, are known to be genetically heterogeneous since a second locus for ADCA type I (SCA2) has been identified on the long arm of chromosome 12. Linkage analysis was performed in 7 French ADCA type I families in order to estimate its frequency. We analysed 121 individuals, 39 of whom were affected. In 6 families, the SCA2 candidate interval, spanning 12.8 cM, was excluded by bi‐ and multipoint analysis. In one family (SAL‐315), however, the maximal positive lod score reached 2.03 at the D12S79 locus. A posterior probability of 94% in favor of linkage to SCA2 was calculated by homogeneity analysis. The clinical profile of this family was similar to that of previously described SCA1 and non‐SCA1 families, except that dementia was observed in 2 out of 6 patients. This may be a clinical idiosyncrasy in this family and was insufficient for a genotype‐phenotype correlation. © 1995 Wiley‐Liss, Inc.
Monoamine oxidases and alcoholism. II. Studies in alcoholic families
Authors: Suarez B. K. , Hampe C. L. , Parsian A. , Cloninger C. R. 
Published: June 2005

AbstractThirty‐five alcoholic families have been studied to investigate the relationship between DNA markers at the monoamine oxidase (MAO) loci and (1) platelet activity levels and (2) alcoholism. A quantitative linkage analysis failed to reveal any evidence that the variation in activity levels cosegregates with the DNA markers. A sib‐pair analysis did not reveal a significant excess of MAO haplotype sharing among alcoholic sibs, although the deviation from random sharing was in the direction consistent with an X‐linked component. A reanalysis of platelet MAO activity levels in a subset of these families revealed that the lower levels previously found in alcoholics is more likely due to the differences between males and females. Only among males and only when a “broad” definition of alcoholism is used (and MAO activity levels are transformed to normality) does it appear that alcoholics have depressed activities compared to nonalcoholics. Finally, when the confounding due to gender difference is removed, no differences between type I and type II alcoholics are found in these families. © 1995 Wiley‐Liss, Inc.