bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mental retardation and Ullrich‐Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X‐inactivation center hypothesis
Authors: Cole Heath , Huang Bing , Salbert Bonnie Anne , Brown Judith , Howard‐Peebles Patricia N. , Black Susan H. , Dorfmann Andrew , Febles Oscar R. , Stevens Cathy A. , Jackson‐Cook Colleen 
Published: June 2005

AbstractFour cases having mosaicism for a small marker or ring [45,X/46,X,+mar or 45,X/46,X,+r] chromosome were ascertained following cytogenetic studies requested because of minor anomalies (cases 1, 3, and 4 ) and/or short stature (cases 2 and 4). While all 4 cases had traits typical of Ullrich‐Turner syndrome (UTS), cases 1, 3, and 4 had manifestations not usually present in UTS, including unusual facial appearance, mental retardation/developmental delay (MR/DD) (cases 3 and 4), and syndactylies (case 1). The facial appearances of cases 1 and 3 were similar yet distinct from that of case 4.Using fluorescence in situ hybridization (FISH), each of the markers in these 4 cases was identified as having been derived from an X chromosome. The level of mosaicism for the mar/r(X) cell line in these cases varied from 70% (case 1) to 16% (case 4) but was not apparently correlated with the presence of MR/DD. Replication studies demonstrated a probable early replication pattern for the mar/r(X) in cases 1,3, and 4, while the marker in case 2 was apparently late replicating.To date, 41 individuals having mosaicism for a small mar/r(X) chromosome have been described. Interestingly, most of the 14 individuals having a presumedly active mar/r(X) demonstrated clinical findings atypical of UTS, including abnormal facial changes (11) and MR/DD (13). MR was noted most frequently in those cases having at least 50% mosaicism for the marker or ring. In contrast, atypical UTS facial appearance or MR/DD was not noted in 14 of the 16 cases with UTS who carried a probable late replicating marker or ring.In conclusion, although the phenotype of 45,X/46,X,mar/r(X) individuals appears to be influenced by the genetic content and degree of mosaicism for the mar/r(X), the most significant factor associated with MR/DD appears to be the activity status of the mar/r(X) chromosome. Thus, our 4 cases provide further support for the hypothesis that a lack of inactivation of a small mar/r(X) chromosome may be a factor leading to the MR and other phenotypic abnormalities seen in this subset of individuals having atypical UTS. © 1994 Wiley‐Liss, Inc.
Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome‐like phenotype
Authors: Mewar Reema , Harrison Wilbur , Weaver David D. , Palmer Catherine , Davee Margaret A. , Overhauser Joan 
Published: June 2005

AbstractWe report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues appeared normal. However, a small piece of chromosomal material of unknown origin was detected at the tip of the long arm of chromosome 1. Fluorescence in situ hybridization (FISH) using whole chromosome 18 painting probes disclosed no additional hybridization at the telomere of 1q, suggesting that the material was derived from another chromosome. Further chromosome painting experiments suggested that the telomeric addition was of chromosome 1 origin. To identify subchromosomal regions involved in the rearrangement, additional FISH analyses were performed using single copy and repetitive DNA probes mapping to different portions of chromosome 1. The analyses showed that probes mapping to 1q34‐43 were duplicated in the derivative chromosome 1. In addition, a DNA probe mapping to 1q44 was found to be deleted from the derivative chromosome 1. Our composite analysis suggests that a deletion and a duplication of chromosome 1q can result in some of the clinical findings usually associated with trisomy 18 syndrome. These results demonstrate the usefulness of FISH analysis when karyotype analysis is not consistent with the clinical description. © 1994 Wiley‐Liss, Inc.
von Voss‐Cherstvoy syndrome: A variable perinatally lethal syndrome of multiple congenital anomalies
Authors: Lubinsky Mark S. , Kahler Stephen G. , Speer Isabell E. , Hoyme H. Eugene , Kirillova Irena A. , Lurie I. W. 
Published: June 2005

AbstractWe report 4 cases and review 7 from the literature with a pattern suggesting a variable early lethal multiple congenital anomaly syndrome. This was first reported by von Voss et al. [1979: “Klinische Genetik in der Pädiatrie,” pp 70–74 ] and Cherstvoy et al. [1980: Lancet ii:485], and can affect upper limbs, face, brain, heart, lungs, urogenital and gastrointestinal systems, vertebrae and ribs, and can include thrombocytopenia. The initial cases had occipital encephaloceles and phocomelia, but milder cerebellar anomalies and radial ray defects may be seen instead. Both sexes are affected and parental age is not increased. This may be heterogeneous, but two consanguineous families, one with recurrences, suggest autosomal recessive inheritance in at least some instances, although the recurrences had milder brain findings than the other cases. The original designation of DK‐pho‐comelia syndrome is inaccurate, since arm findings may be limited to radial anomalies; we suggest instead the von Voss–Cherstvoy syndrome. This may be heterogeneous, but at present, phenotypic overlap prevents differentiation of subgroups. The disorder appears to be part of a group of syndromes with radial and hematologic abnormalities. © 1994 Wiley‐Liss, Inc.
Head circumference of children with Williams‐Beuren syndrome
Authors: Pankau Rainer , Partsch Carl‐J. , Neblung Anke , Gosch Angela , Wessel Armin 
Published: June 2005

AbstractHead circumference is considered an important parameter of brain growth and development. Syndrome‐specific standards for head circumference in Williams‐Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (±SD) head circumference at birth was 33.39 ± 1.38 cm and 34.02 ± 1.44 cm for term girls and boys, respectively.Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5–2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 ± 1.75 cm (n = 16) compared to 55.70 ± 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 ± 1.68 cm (n = 30) compared to 57.87 ± 1.29 cm (n = 31; P < 0.00001) in WBS men. During development, microcephaly is only seen in about one third of WBS patients. © 1994 Wiley‐Liss, Inc.
Mixoploidy in humans: Two surviving cases of diploid‐tetraploid mixoploidy and comparison with diploid‐triploid mixoploidy
Authors: Edwards Matthew J. , Park Jonathan P. , Wurster‐Hill Doris H. , Graham John M. 
Published: June 2005

AbstractWe report on 2 cases of diploid/tetraploid (2n/4n) mixoploidy in surviving females, 11 and 21 years old. Both individuals manifested severe mental retardation, reduced peripheral limb muscle bulk, asymmetric growth deficiency, seizure disorder, and skin pigmentary dysplasia. Previous lymphocyte karyotypes had been normal on 2 occasions, but when skin fibroblast karyotypes were done, 33% of the cells were tetraploid on the younger woman, and over 60% were tetraploid in the older woman (on 2 separate occasions). In both individuals, the distal limbs and digits were long and thin, with reduced small muscle bulk. The similarity in distal limb findings prompted reexamination of the younger woman's chromosomal constitution in skin fibroblasts. We concluded that the clinical findings in these cases are unique and similar, and we caution clinicians about uniformly dismissing tetraploidy as artifactual in amniocytes from normal patients, especially since this phenotype would be very difficult to detect, even with directed prenatal ultrasonography. We compare the 2n/4n phenotype with that in diploid/triploid (2n/3n) mixoploidy and note subtle differences which might be detected postnatally. These findings should be useful in guiding clinicians on when to request skin fibroblast karyotypes in mentally‐deficient individuals with asymmetric growth deficiency and pigmentary skin variation. © 1994 Wiley‐Liss, Inc.
FISH mapping of a human chromosome 16 constitutional pericentric inversion inv(16)(p13q22) found in a large kindred
Authors: Stallings Raymond L. , Bianchi Diana W. 
Published: June 2005

AbstractFluorescence in situ hybridization analysis (FISH) was used to map the constitutional chromosome 16 pericentric inversion breakpoints inv(16)(p13q22) detected in one individual (II‐2) from a large kindred [Bianchi et al., 1992: Am J Med Genet 43:791–795]. The breakpoints found in individual II‐2 mapped to distinctly different locations than the chromosome 16 pericentric inversion breakpoints commonly acquired in acute nonlymphocytic leukemia. The constitutional pericentric inversion breakpoints also do not map to regions where low abundance repetitive DNA sequences found in bands 16p13 and q22 are located. The results indicate that low abundance, chromosome 16‐specific repetitive DNA sequences in bands p13 and q22 are probably not causally related to the inversion that is found in many members of a large kindred [Bianchi et al., 1992]. © 1994 Wiley‐Liss, Inc.
Lessons on objectivity in clinical studies
Authors: Harvey Elizabeth A. , Hayes Ailish M. , Holmes Lewis B. 
Published: June 2005

AbstractClinical assessments made with measuring devices are generally considered “objective” and “accurate” and are, therefore, more discriminating than subjective assessments. We show that the choice of measuring devices or non‐standardized landmarks to be used with the measuring devices affect the “accuracy” of the “objective” findings. © 1994 Wiley‐Liss, Inc.
OEIS complex with craniofacial anomalies—defect of blastogenesis?
Authors: Haldar Ashutosh , Sharma Anita K. , Phadke Shubha R. , Jain Anita , Agarwal S. S. 
Published: June 2005

AbstractWe report on a 31‐week fetus with hydrocephalus, hypertelorism, microtia, short neck, vertebral and rib defects, scoliosis, omphalocele, exstrophy of bladder, absent external genitalia and pubic rami, imperforate anus, diaphragmatic hernia, defective lobulation of lungs, single kidney, bicornuate uterus, and flexion deformities of the limbs. Similar extensive anomalies in the rostral and caudal regions were described by Russell et al. [Pediatrics, 67:176–182, 1981] and Stewart et al. [Am J Med Genet, 45:426–429, 1993]. The patients described by them had a combination of the oculo‐au‐riculo‐vertebral sequence (OAV) and caudal deficiency sequence, whereas the patient reported here can best be described as a combination of OAV and OEIS (omphalocele, exstrophy of bladder, imperforate anus, spinal defects) complexes. The widespread malformations seen in our patient may be the result of an error during blastogenesis. © 1994 Wiley‐Liss, Inc.
Monozygotic twins of different apparent sex
Authors: Yokota Yukifumi , Akane Atsushi , Fujino Nobuyuki , Sato Yoshiaki , Matsunobu Akira , Matsuura Nobuo , Maeda Tohru , Tadokoro Mamoru , Nakahori Yutaka , Nakagome Yasuo 
Published: June 2005

AbstractWe report on twins of unlike sex who shared a 45, X/46, X, +mar karyotype. The mar chromosome was found to be Yq− by DNA analysis. Marker studies, including 8 VNTR loci, yielded a probability of monozygosity of 0.99999996. © 1994 Wiley‐Liss, Inc.
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1
Authors: Edwards M. J. , Challinor C. J. , Colley P. W. , Roberts J. , Partington M. W. , Hollway G. E. , Kozman H. M. , Mulley J. C. 
Published: June 2005

AbstractSimple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBNl, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. © 1994 Wiley‐Liss, Inc.
Bartsoeas–Papas syndrome with internal anomalies: Evidence for a more generalized epithelial defect or new syndrome?
Authors: Hennekam Raoul C. M. , Huber Jonne , Variend Dick 
Published: June 2005

AbstractWe report on two Dutch sibs with external anomalies compatible with Bartsocas–Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients. © 1994 Wiley‐Liss, Inc.
Phenotype/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases
Authors: Hsu Lillian Y. F. 
Published: June 2005

AbstractOver 600 cases with a Y aneuploidy (other than non‐mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism 45,X/46,XY (79 cases), 45,X/47,XYY (8 cases), and 45,X/46,XY/47,XYY (6 cases), all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. This review includes 11 cases of 46,XYp‐; 90 cases of 46,XYq‐ (52 cases non‐mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non‐mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non‐mosaic and 4 mosaic with 45,X); 12 cases of 46,X,i(Yq) (7 non‐mosaic and 5 mosaic); 44 cases of 46,X,idic(Yq); 80 cases of 46,X, idic(Yp) (74 cases had breakpoints at Yq11 and 6 cases had breakpoints at Yq12); 130 cases of Y/autosome translocations (50 cases with a Y/A reciprocal translocation, 20 cases of Y/A translocation in 45,X males, 60 cases of Y/Dp or Y/Gp translocations); 52 cases of Y/X translocations [47 cases with der(X); 4 cases with der(Y), and 1 case with 45,X with a der(X)], 7 cases of Y/Y translocations; 151 postnatally diagnosed cases of 45,X/46,XY; 14 postnatally diagnosed cases of 45,X/47,XYY; 18 cases of 45,X/46,XY/47,XYY; and 93 aforementioned prenatally diagnosed cases with a 45,X cell line.It is clear that in the absence of a 45,X cell line, the presence of an entire Yp or a region of it including SRY would lead to a male phenotype in an individual with a Y aneuploidy, whereas the lack of Yp invariably leads to a female phenotype with typical or atypical Ullrich‐Turner syndrome (UTS). Once there is a 45,X cell line, regardless of whether there is Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell line, there is an increased chance for that individual to be a phenotypic female with UTS manifestations or to have ambiguous external genitalia.This review once again shows a major difference in reported phenotypes between postnatally and prenatally diagnosed cases of 45,X/46,XY, 45,X/47,XYY, and 45,X/46,XY/47,XYY mosaicism. It appears that ascertainment bias can explain the fact that all known patients with postnatal diagnosis are phenotypically abnormal, while over 90% of prenatally diagnosed cases are reported to have a normal male phenotype.Further elucidation of major Y genes and their clinical significance can be expected in the rapidly expanding gene mapping projects. More, consequently better, phenotype/karyotype correlations can be anticipated at both the cytogenetic and the molecular level. © 1994 Wiley‐Liss, Inc.
Psychosocial functioning in the Ehlers‐Danlos syndrome
Authors: Lumley Mark A. , Jordan Margaret , Rubenstein Ralph , Tsipouras Petros , Evans Mark I. 
Published: June 2005

AbstractEhlers‐Danlos Syndrome (EDS) is a group of related genetic disorders of connective tissue presenting with joint hypermobility, skin extensibility, and tissue fragility. Although the pathophysiology of EDS is increasingly understood, the psychosocial effects of having EDS have not been examined. We psychologically tested and interviewed 41 adults and 7 children with EDS. Anxiety, depression, anger, and interpersonal concerns were significantly elevated, varying from one‐quarter to one‐third of patients; over 70% had a history of some mental health care use. Psychological difficulties appear to result from chronic pain and disability, ostracism or avoidance of relationships and social activities, sexual difficulties and reproductive concerns, and frustration with the medical system. Specific types of EDS (e.g., EDS Type I) are associated with greater pain and psychological distress. Psychological intervention, prescribed with the recognition that psychiatric features are secondary to EDS, is recommended for some patients. © 1994 Wiley‐Liss, Inc.
New case of the Carey‐Fineman‐Ziter syndrome
Authors: Baraitser M. , Reardon W. 
Published: June 2005

AbstractWe present a further case, the fourth known to us, of the Carey‐Fineman‐Ziter syndrome. The emergence of a consistent and recognisable phenotype, characterised by hypotonia, weakness, ophthalmoplegia, and a Möbius‐like clinical picture, is emphasised. © 1994 Wiley‐Liss, Inc.
Oblique facial clefts: Report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity
Authors: Richieri‐Costa A. , Gorlin Robert J. 
Published: June 2005

AbstractOblique facial clefts are rare and include types 2–6 of Tessier's classification. Here we report on 4 patients with oblique facial clefts and a strikingly similar facial appearance. The pattern of facial involvement, the presence of consanguinity in 3 of them, as well as the entire clinical picture, suggest a unique dysmorphogenetie process which could represent, in some instances, an oculomaxillofacial dysostosis. © 1994 Wiley‐Liss, Inc.
Non‐immune hydrops fetalis associated with impaired fetal movement: A case report and review
Authors: Robin Nathaniel H. , Curtis Mark T. , Mulla Wadia , Reynolds Carol A. , Anday Endla , Rorke Lucy B. , Zackai Elaine H. 
Published: June 2005

AbstractNon‐immune hydrops fetalis (NIHF) is due to many different causes. Fetal hypomobility has been alluded to as a possible cause. We present a preterm fetus with NIHF secondary to fetal hypomobility. Fetal movements were undetected after the 20th week of gestation. The infant was born 8 weeks later and was edematous, had pleural effusions, and no spontaneous movements. He died on day four of life. Diffuse massive central nervous system (CNS) destruction found on post‐mortem examination was thought to be the origin of the hypomobility. As all other causes of NIHF were eliminated, we propose that the NIHF in this infant was due to the hypomobility. This case then gives support to the assertion that fetal hypomobility is another cause of NIHF. The cause of the CNS catastrophy remains unelucidated. © 1994 Wiley‐Liss, Inc.
Molecular analysis of a complex chromosomal rearrangement and a review of familial cases
Authors: Batista Denise A. S. , Pai G. Shashidhar , Stetten Gail 
Published: June 2005

AbstractA complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra der(13). In initial banding studies the CCR in the mother was interpreted as a three‐way translocation. Fluorescence in situ hybridization with whole chromosome libraries and a telomerespecific probe was used to better characterize the rearrangement. Combined data allowed us to reinterpret the CCR as a translocation and an insertion. A review of 35 familial CCRs involving at least three chromosomes led to the following observations: 1) familial CCRs tend to have fewer chromosomes involved and fewer breakpoints than do de novo CCRs; 2) familial transmission is mainly observed through female carriers although the origin of de novo cases is paternal; 3) an apparent excess of balanced female carriers among the off‐spring of index carriers was noted; and 4) meiotic segregation resulting in malformed liveborn infants is most frequently due to adjacent‐1 segregation, followed by 4:2 segregation; no adjacent‐2 segregation was observed. © 1994 Wiley‐Liss, Inc.
Chorionic villi sampling: Laboratory experience with 4,000 consecutive cases
Authors: Wang Boris T. , Peng Willow , Cheng Kao‐Tien , Chiu Shui‐Feng , Ho William , Khan Yusuf , Wittman Maria , Williams John 
Published: June 2005

AbstractExperience with 4,000 consecutive CVS cases shows that 1) the combination of both the direct and culture methods greatly reduces false diagnoses and maternal cell contamination; 2) the time interval between the sampling procedure and processing of villus specimens influences the quality of direct preparations; 3) maternal cell contamination (MCC) can be minimized with dissection of CVS specimens. We have compiled a large volume of confined placen‐tal mosaicism (CPM) cases to serve as a resource in interpreting mosaic cytogenetic findings. It was noted that, in up to 92% of the mosaic cases, the abnormal cell line was confined to the placenta. The frequency of true chromosomal mosaicism was 0.2%, and is not different from that for amniocentesis. © 1994 Wiley‐Liss, Inc.
Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes
Authors: Neavel Celia B. , Soukup Shirley 
Published: June 2005

AbstractA del(11) (q24.2) was ascertained in a 2‐year‐old child and subsequently in her 20‐year‐old mother. Both mother and daughter had developmental delay, short stature, and “coarse” facial appearance. We compare our patients' manifestations to those associated with the distal 11q2 deletion phenotype (“Jacobsen” syndrome), and to the one other reported case of del(11)(q24.2). Our patients did not resemble this latter case, but had some findings in common with Jacobsen syndrome. We present our findings in order to contribute to the information on 11q2 deletions. © 1994 Wiley‐Liss, Inc.