bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic heterogeneity of I‐cell disease is demonstrated by complementation of lysosomal enzyme processing mutants
Authors: Shows T. B. , Mueller O. T. , Honey N. K. , Wright C. E. , Miller A. L. 
Published: June 2005

AbstractI‐cell disease (mucolipidosis II) is a fatal childhood disorder affecting the expression of multiple lysosomal acid hydrolases. The disorder is characterized by clinical and biochemical heterogeneity which may reflect different mutants with a similar phenotype. Genetic complementation studies demonstrating genetic heterogeneity within this disorder are described utilizing cultured fibroblasts from 11 different patients. Fibroblasts from I‐cell disease (ICD) and from five different lysosomal storage diseases with single structural gene enzyme deficiencies were fused in different combinations, and fractions enriched for multinucleated heterokaryons were isolated and tested for acid hydrolase activity and electrophoretic mobility. In fusions of ICD fibroblasts and various single lysosomal enzyme‐deficient fibroblasts, the activity of the deficient enzyme and of the other ICD hydrolases were restored, demonstrating that ICD is not a lysosomal enzyme structural gene defect and that the ICD defect, and not just the single enzyme deficiency, is corrected. In fusions involving only I‐cell fibroblasts, at least two complementation groups were identified by the recovery of activities of all lysosomal enzymes tested in heterokaryons. These results demonstrate the existence of genetic heterogeneity within the disorder and suggest that different mutations can result in the I‐cell clinical and biochemical phenotype. The data support an altered post‐translational processing of lysosomal enzymes as the cause of ICD and suggest that at least two genes participate in this pathway.
Occasional essay: Jewish perspective on prenatal diagnosis and selective abortion of affected fetuses, including some comparisons with prevailing catholic beliefs
Authors: Fineman Robert M. , Gordis David M. 
Published: June 2005

AbstractPrenatal diagnosis and selective abortion of affected fetuses are controversial subjects for many individuals. Much of the controversy centers around religious beliefs. In this paper we present prevailing Jewish and Catholic beliefs concerning these two subjects. We hope to resolve some of the controversy and emphasize the fact that physicians counsel and patients often make decisions based on their religious persuasion.
Limb pterygium syndromes: A review and report of eleven patients
Authors: Hall Judith G. , Reed Susan D. , Rosenbaum K. N. , Gershanik J. , Chen H. , Wilson K. M. 
Published: June 2005

AbstractConditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here.Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1–7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability.Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low‐set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon.One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low‐set ears with slit‐like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short‐limb skeletal dysplasia
Authors: Sillence D. O. , Lachman R. S. , Jenkins T. , Riccardi V. M. , Rimoin D. L. 
Published: June 2005

AbstractWe report two sporadic cases with a previously undescribed skeletal dysplasia lethal in the neonatal period. The syndrome is characterised clinically by striking rhizomelic shortness of the limbs and radiographically by absence or hypoplasia of the humeri, hypoplastic vertebrae, absent fibulae and ossification in only the distal phalanges of the hands. Morphologic studies show hypocellular areas of growth plate cartilage containing occasional multinucleated giant cells.
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy
Authors: Gilgenkrantz S. , Vigneron C. , Gregoire M. J. , Pernot C. , Raspiller A. , Opitz John M. 
Published: June 2005

AbstractWe report another patient with del(11p) and aniridia, catalase deficiency, and cardiomyopathy. This association is confirmed from a review of previously reported cases. Since other dysplasias are known in this syndrome, the hypertrophic cardiomyopathy in del(11p) children may also represent an abnormality of tissue development.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
Authors: Halal Fahed , Picard Jean‐Louis , Raymond‐Tremblay Danielle , de Bosset Philippe , Opitz John M. 
Published: June 2005

AbstractWe report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, and dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. Dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait.
Branchial arch malformations in infants of diabetic mothers: Two case reports and a review
Authors: Johnson John P. , Fineman Robert M. , Opitz John M. 
Published: June 2005

AbstractWe describe two infants of diabetic mothers (IDMs) with branchial arch, vertebral, cardiovascular, and central nervous system malformations. Our observations support the hypothesis of Grix et al [1982] that branchial arch abnormalities may occur with increased frequency in children of diabetic mothers. Two other IDMs (a literature case with hemifacial microsomia and caudal regression, and a child we evaluated with ear abnormalities and the femoral hypoplasia‐unusual facies syndrome) reinforce this suggested association. The latter two patients also demonstrate concurrence of branchial arch abnormalities with caudal regression and/or femoral hypoplasia, field defects known to be strongly associated with maternal diabetes mellitus. Genetic counseling for maternal diabetes mellitus probably should include information regarding all of these developmental abnormalities.
The fragile X(q27) form of X‐linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes
Authors: Brookwell Ross , Daniel Art , Turner Gillian , Fishburn Jane , Opitz John M. 
Published: June 2005

AbstractThe effect of FUdR on the expression of fra(X)(q27) was examined in lymphocytes and/or fibroblasts from 16 affected males and 5 carriers from 10 families; six different culture media were used: F10, 5% serum, pH 7.3(37°C); medium 199, 5% serum, pH 7.6(37°C); folate‐free 199, 5% serum, pH 7.6(37°C), and these three media with FUdR (0.05 μm). In lymphocytes there was no significant difference in the percentage of fra(X) expressing cells between any of the FUdR‐containing media. The highest percentage of expressing cells seen in lymphocytes with FUdR was 56%. The average enhancement in males with FUdR in the 199 and folate‐free 199 media was 30%. This relative enhancement with FUdR was very much higher in a few blood specimens delayed in transit and FUdR may prevent some of the false‐negative results obtained from mailed specimens. FUdR did not induce the marker in four obligate carriers with previously negative results. The fibroblasts from affected males were grown in the six specific media for the last 48 hr. Two of the six media yielded reproducibly positive results. These were 199‐FUdR and folate‐free 199‐FUdR with mean percentages of expressing cells of 12.8 ± 7.1% and 11.3 ± 6.1%, respectively. F10‐FUdR, which contains thymidine, did not permit expression of the marker in fibroblasts and there was no difference in the percentage of fra(X) expression in 199‐FUdR media with or without folate. It was concluded that FUdR shows promise as an agent to permit prenatal diagnosis of the condition and to enhance the detection of the marker in lymphocyte cultures.
Administration of iduronate sulfatase by plasma exchange to patients with the hunter syndrome: A clinical study
Authors: Brown Frank R. , Hall Clara W. , Neufeld Elizabeth F. , Munoz Louis L. , Braine Hayden , Andrzejewski Stanley , Camargo Edwaldo E. , Mark Shirley A. , Richard James M. , Moser Hugo W. , Herrmann Jürgen 
Published: June 2005

AbstractThe Hunter syndrome (MPS II) is the only mucopolysaccharidosis in which there is appreciable activity of the deficient enzyme in normal plasma. We performed enzyme‐replacement treatment by plasma exchange in five Hunter syndrome children. Carefully monitoring the cardiovascular status, we administered monthly single plasma volume exchanges for a 3 to 8 mo period. The results indicate a substantial gain of enzyme activity, persisting with a t50% = 19 ± 5 hr. The maximal level and persistence of increased enzyme activity did not change after repeated exchanges, suggesting that immune responses were not elicited. Despite this, no demonstrable clinical benefit was apparent when the study group was compared with an age‐matched control group of Hunter syndrome patients.
Familial amniotic bands
Authors: Lubinsky Mark , Sujansky Eva , Sanger Warren , Salyards Phyllis , Severn Charles , Herrmann Jürgen 
Published: June 2005

AbstractAmniotic bands can cause a wide variety of deformities and mutilations. They are generally considered sporadic. Two families are presented with apparent familial amniotic band anomalies. Additional cases in the literature are reviewed. These aggregations may be coincidental, and recurrence risk is apparently low. However, amniotic band malformations may be an indication for caution in the use of amniocentesis in future pregnancies.
A new short rib syndrome: Report of two cases
Authors: Beemer Frits A. , Langer Leonard O. , Klep‐De Pater Johanna M. , Hemmes Anne M. , Bylsma Jan B. , Pauli Richard M. , Myers Terry L. , Haws Claude C. , Opitz John M. 
Published: June 2005

AbstractWe describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs.Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present.Comparison with earlier described short‐rib/short‐rib‐polydactyly syndromes suggest that the disorder present in our two cases is a new type of short‐rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real‐time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short‐rib syndrome may be an autosomal recessive disorder.
Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12)
Authors: Gonzalez Claudette H. , Billerbeck Ana Elisa C. , Takayama Luiza C. , Wajntal Anita , Opitz John M. 
Published: June 2005

AbstractWe present a dup (10p) due to a t(10;14) (p11;p12)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 ♂; 15 ♀) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 10p; and one case had a supernumerary ring chromosome composed of 10p material.The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a “crease triangle” seems a helpful sign in the clinical diagnosis of duplication 10p.
Historical background and evidence for dominant inheritance of the Klein‐Waardenburg syndrome (type III)
Authors: Klein David , Opitz John M. 
Published: June 2005

AbstractThe story of the Klein‐Waardenburg syndrome begins with the presentation before the Swiss Society of Genetics in Geneva in August 1947 of a 10‐year‐old girl, who showed, in addition to deafmutism, partial albinism of the hair and over the whole body, dystopia canthorum, blue hypoplastic irides, broad and prominent nasal root, absence of the frontonasal angle, and blepharophimosis. Waardenburg, impressed by the complex clinical picture of our proposita whom he saw in Geneva in 1948, subsequently undertook a systematic investigation in several Dutch institutions for the deaf. He was able to confirm from his study that several manifestations of our patient, principally the palpebro‐irido‐auditory complex, represented a well‐defined syndrome transmitted as a dominant trait with variable penetrance and expressivity. Since arthromyodysplasia did not figure among the clinical signs of his patients, Waardenburg suggested at first the possibility of either a homozygous state of the same mutation or the effect of a different allele as the cause of the accompanying gross skeletal and muscular defects. However, later on he completely questioned the nosologic placement of our case within the framework of his syndrome, having never encountered such extensive bone anomalies in more than one hundred observations.Meanwhile four other cases with similar hypoplastic upper limb anomalies have been recorded and show an astonishing degree of resemblance to our original proposita with regard to specific bone alterations and their location. However, until recently there were still no observations concerning the inheritance of this complex syndrome.The follow‐up examination of a French family where the father manifested the complete Klein‐Waardenburg syndrome including muscular and skeletal defects of the upper limbs, and his 12‐year‐old son who had apparently a typical Waardenburg syndrome (but with Sprengel deformity), enabled for the first time the postulation of a common genetic basis for both types with an autosomal‐dominant inheritance of incomplete penetrance and variable expressivity. Further investigations are however needed before this type of inheritance can be considered as firmly established for the Klein‐Waardenburg syndrome.
A boy with ring chromosome 15 derived from a t(15q;15q) robertsonian translocation in the mother: Cytogenetic and biochemical findings
Authors: Neri Giovanni , Ricci Roberta , Pelino Alessandro , Bova Renato , Tedeschi Bruna , Serra Angelo , Opitz John M. 
Published: June 2005

AbstractWe describe a boy with a ring chromosome 15, showing the manifestations characteristic of this condition, ie, growth deficiency and unusual facial appearance with minor anomalies. The ring was derived from a t(15q;15q) chromosome of the mother, who had also had four spontaneous abortions. The respective karyotypes were 45, XX, −15, −15, +t(15q;15q) (mother) and 46,XY, − 15, + r(15q;15q)mat (15q13 → cen → 15q26)(son). The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen → q13. Data from enzyme assays suggest that this duplicated region carries the α‐mannosidase gene.
Duplication 6q24 → 6qter in an infant from a balanced paternal translocation
Authors: Chase T. R. , Jalal S. M. , Martsolf J. T. , Wasdahl W. A. , Opitz John M. 
Published: June 2005

AbstractDuplication of 6q24 → 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 → q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow‐shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominant eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 → 6qter) produces a highly characteristic syndrome.
A high incidence of maternal cell contamination of amniotic fluid cell cultures
Authors: Benn Peter A. , Schonhaut Amy G. , Hsu Lillian Y. F. , Karp Laurence E. 
Published: June 2005

AbstractMaternal cell contamination (MCC) of amniotic fluid cell cultures was detected as an admixture of male and female cells in 15 out of 3,000 cases. Allowing for undetected cases (in which the fetal karyotype is female), the true incidence of MCC may be as high as 1%. Cultures affected by MCC were, in general, established from fluid samples without obvious blood contamination. No common obstetrical or amniocentesis procedural factors could be recognized among those cases affected by MCC. The proportion of maternal cells was highly variable and in some instances maternal cells were present in multiple cultures.In this series, MCC has not led to any cytogenetic misdiagnoses. MCC may pose its greatest danger for prenatal biochemical diagnoses where the properties of an entire cell population are determined.
Del(X) (q26) in a phenotypically normal woman and her daughter who also has trisomy 21
Authors: Taysi Kutay , Opitz John M. 
Published: June 2005

AbstractWe present a phenotypically normal woman with del(X)(q26) with no evidence of mosaicism, who had two pregnancies resulting in two live‐born infants. Her first child had trisomy 21 Down syndrome and the del(X)(q26). To our knowledge, this woman is the first known case of presumably nonmosaic del(Xq) producing live‐born infants. This finding can be explained on the basis of persistence into adulthood of germ cells in ovaries of the rare del(Xq) individuals. The normal phenotype in this woman supports the hypothesis that the absence of genes of middle Xq segment.(q13 → q26) is responsible for the somatic manifestations of the Ullrich‐Turner syndrome.Our finding suggests that prenatal diagnosis should be offered not only to pregnant women with numerical X chromosome abnormalities, as suggested previously, but also to those with structural X chromosome abnormalities, because of the possibility of chromosome aberrations in the offspring of such women.
Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia)
Authors: Maclean Ronald N. , Prater William K. , Lozzio Carmen B. , Opitz John M. 
Published: June 2005

AbstractWe report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait.
Familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith‐Lemli‐Opitz (RSH) syndrome
Authors: Kohler H. G. 
Published: June 2005

AbstractTwo siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left‐heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets.Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so‐called Smith‐Lemli‐Opitz (RSH) Syndrome.
Chromosome studies of patients with Alzheimer disease
Authors: Moorhead Paul S. , Heyman Albert , Opitz John M. 
Published: June 2005

AbstractTen patients with either the familial or sporadic form of Alzheimer disease (AD) were studied cytogenetically to confirm reports of aneuploidy and “long acentric fragments” associated with the disease. Findings in leukocytes of patients were compared with those in eight unaffected relatives and seven persons of similar age. Observations from encoded slides involving 3,800 conventionally stained and 1,396 G‐banded metaphases (one patient) showed no significant increase in aneuploidy. The frequency of cells with hypermodal counts, a reliable measure of aneuploidy, was 4.2% and 1.1%, respectively, in women and men with familial AD and 4.0% and 2.3%, respectively, in women and men with the sporadic form of the illness. Similar frequencies of hypermodal cells occurred in female (2.6%) and in male (2.0%) control subjects.In contrast to the lack of aneuploidy, a small but significant number of false “long acentric fragments” was found in cells of women with AD (P <.05). These aberrations are thought to represent premature centromere division (PCD) in intact chromosomes, primarily supernumerary Xs. Often in multiple copies, PCD occurred in 2.8% of their cells and in 0.6% of cells from control women. PCD occurred in 3.6% of cells of women with the familial form and in 1.7% of cells of women with the sporadic type of dementia. Among unaffected relatives PCD increased with age. The rarity of PCD in G‐banded metaphases from an affected female (3/1,396) suggests that metaphase spreading techniques also may affect observable frequency. Thus PCDs occur more frequently in, but are not unique to, AD and may represent an epiphenomenon of aging, a process also characterized by the occurrence of neurofibrillary tangles and senile plaques in the cerebral cortex.
Dicentric i(Yq) chromosome and azoospermia
Authors: Ataya Khalid M. , Dudin Gertrud , Mroueh Adnan 
Published: June 2005

AbstractWe have studied a 43‐year‐old man with azoospermia. Chromosome analysis, using G‐, Q‐, and C‐banding techniques, showed a dicentric 46,X,i(Yq) chromosome abnormality. The clinical, cytogenetic, endocrine, and testicular histologic findings are presented. The case is discussed in relation to the pertinent literature. This represents the first phenotypic male with this karyotype ever reported.