bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inherited diseases in North American Mennonites: Focus on old colony (Chortitza) Mennonites
Authors: Jaworski M. A. , Severini A. , Mansour G. , Hennig K. , Slater J. D. , Jeske R. , Schlaut J. , Yoon J. W. , Maclaren N. K. , Nepom G. T. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe patterns of migration and the genetic disorders occurring among North American Mennonites are reviewed, and inherited conditions recently recognized in a religious and genetic isolate, the Old Colony (Chortitza) Mennonites, are described. Old Colony Mennonites are of Dutch/ German origin and descend from approximately 400 founding families who settled in the Old Colony, Chortitza (the Ukraine, USSR) in the late 1700s, and then migrated to Canada and Central and South America in the past century. We investigated over 6 generations of a Canadian Old Colony kindred in which there was extensive intermarriage, and in whom 28 individuals developed diabetes mellitus. Insulin‐dependent diabetes mellitus (IDDM) occurred in 14 affected individuals in 10 closely related sibships; the 11 living IDDM patients were all concordant for the immunogenetic marker HLA‐DR4. Fourteen close relatives had other disorders of carbohydrate metabolism, including gestational diabetes and non‐insulin‐dependent diabetes mellitus. Other close relatives had autoimmune diseases, including rheumatoid arthritis, hyper‐ and hypothyroidism, multiple sclerosis, and red cell aplasia. Other inherited diseases, including Alport syndrome, congenital defects, and inborn errors of metabolism were also found in the kindred. In the almost exclusively (99%) Old Colony Mennonite public health district in which the kindred was ascertained, there were multiple cases of Tourette syndrome, of malformations (including congenital heart defects and cleft lip ± palate), and familial clusters of inborn errors of metabolism. We report this Old Colony (Chortitza) Mennonite isolate because (1) there are large familial aggregations of tissue‐specific autoimmune diseases, malformations, inborn errors of metabolism, and of some other conditions whose genetic basis is still unknown; (2) there are multiple cases of rare genetic conditions, (3) we have established a computerized genealogic data base on over 1,000 kindred members as well as a cryopreserved lymphocyte/ DNA bank on over 100 closely related individuals with various genetic conditions; and (4) this religious isolate, which extends across North, Central, and South America, offers an excellent opportunity for studying the epidemiology and molecular genetics of both common and rare inherited diseases.
Interstitial long‐arm deletion of chromosome 7 and ectrodactyly
Authors: Tajara Eloiza Helena , Varella‐Garcia Marileila , Gusson Antonio Carlos Tonelli 
Published: June 2005

AbstractAn interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.
Predictive testing for Huntington disease: II. Demographic characteristics, life‐style patterns, attitudes, and psychosocial assessments of the first fifty‐one test candidates
Authors: Bloch M. , Fahy M. , Fox S. , Hayden M. R. , Reynolds James F. 
Published: June 2005

AbstractPredictive testing was offered to individuals at‐risk for Huntington disease living within a 100‐mile radius of Vancouver, BC. Ninety‐five at‐risk individuals, representing approximately 12.6% of eligible candidates in this area, have enrolled in its first 16 months. This paper reports on the psychosocial characteristics of the first 51 at‐risk individuals to complete the initial assessment.Two‐thirds of the candidates are female with a mean age 39.3 years. They derive from higher socioeconomic backgrounds. Reasons for taking the test included planning for the future, concern for their children, and reducing uncertainty. Only 29.4% of candidates would both desire prenatal testing and terminate a high‐risk pregnancy. Results on the SCL 90(R), General Well‐Being, and other scales indicate that the candidates' mental health is representative of the population, but as a group, they are more resourceful. The tests identified individuals who needed further assessment on the basis of previous and current psychiatric functioning and social support. No candidate was a high immediate suicidal risk.The process of personal assessment has had beneficial effects on personal growth. The self‐selection of a healthy group of candidates emphasizes the need for continued assessment and support as possibly less healthy candidates register for predictive testing programs in the future.
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
Authors: Verloes A. , Lambotte C. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractThree children are described from two sibships. They share infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender‐shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sib‐ships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.
Hypogenitalism in the acrocallosal syndrome
Authors: Temtamy Samia A. , Meguid Nagwa A. 
Published: June 2005

AbstractWe have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. He had unusual facial appearance, postaxial polydactyly with unilateral soft tissue syndactyly of fingers, mental retardation, and absence of corpus callosum. Findings in the present case were compared with those of previously reported cases. Other syndromes associated with agenesis of the corpus callosum must be differentiated. The main differences between the acrocallosal syndrome and the Greig syndrome are outlined with particular emphasis on digital anomalies. The acrocallosal syndrome is an autosomal recessive trait with variable expressivity. Hypogenitalism may be a presenting feature. Positive consanguinity provides further evidence for autosomal recessive inheritance.
Secondary trisomy or mosaic “tetrasomy” 8p
Authors: Robinow Meinhard , Haney Nancy , Chen Harold , Sorauf Thomas , Van Dyke Daniel L. , Babu V. Ramesh , Powell Sandra , Maliszewski William , Guerin Susan , Landers Janes W. 
Published: June 2005

AbstractWe report on two patients with mosaic tetrasomy of 8p[46,XY/47,XY,+i(8p)], a previously unreported cytogenetic anomaly. The first patient had a low percentage of tetrasomic (secondary trisomic) cells in lymphocytes and fibroblasts, an only mildly abnormal phenotype, and a rather benign clinical course. The second patient had a considerably larger percentage of tetrasomic cells in lymphocytes and fibroblasts, and had more severe congenital anomalies that led to his death at 8 months. A characteristic phenotype +i(8p) is suggested but not yet established. The manifestations of these two patients resemble those of mosaic trisomy 8 and mosaic trisomy 8p, with rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles.
Chediak‐Higashi syndrome: Prenatal diagnosis by fetal blood examination in the feline model of the disease
Authors: Kahraman M. Müfit , Prieur David J. 
Published: June 2005

AbstractChediak‐Higashi syndrome (CHS) is an autosomal recessive disease of humans, mink, cattle, mice, killer whales, cats, and blue and silver foxes. The disease is characterized by incomplete oculocutaneous albinism, recurrent and severe pyogenic infections, a bleeding tendency secondary to a platelet storage pool deficiency, and enlarged granules in many types of cells. Humans with CHS usually die during childhood. It has been suggested that the prenatal diagnosis of CHS should be possible by the demonstration of enlarged granules in neutrophils of fetal blood. We tested this hypothesis using 20 cat fetuses obtained 18 days at prepartum. Two litters (6 fetuses) were from CHS to CHS matings and four litters (14 fetuses) were from CHS male to heterozygous female matings. Fetuses were identified as CHS or phenotypically normal by histologic examination of the size of melanin granules in the ciliary body and by the size of periodic acid‐Schiff‐positive granules in renal tubular epithelial cells. The diameter of the peroxidase‐positive granules in neutrophils of the 15 CHS fetuses ranged from 0.3 to 3.0 μm whereas those of the five normal fetuses ranged from 0.3 to 1.0 μm. All 20 fetuses were correctly classified as CHS or phenotypically normal. These data indicate that examination of the size of fetal blood neutrophil granules can be used to diagnose CHS prenatally.
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother
Authors: Williams Charles A. , Hendrickson Jill E. , Cantú Eduardo S. , Donlon Timothy A. 
Published: June 2005

AbstractWe report on a 4‐year‐old girl with Angelman syndrome who has an apparent de‐novo del(15) (q11q13) originating from a maternally derived chromosome. Her mother had severe brachycephaly, sensorineural hearing loss, speech impediment, and mild ataxia. CT brain scans showed an enlarged foramen magnum in the mother and daughter but magnetic resonance imaging (MRI) showed no brainstem abnormality in either. This family demonstrates that some Angelman syndrome cases may be dominantly transmitted with variable expression and associated with abnormal or cytogenetically apparently normal chromosome 15.
Duplication of distal 22q
Authors: Abeliovich Dvorak , Maor Esther , Bashan Nava , Carmi Rivka 
Published: June 2005

AbstractWe report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.
Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)
Authors: Gorski Jerome L. , Cox Beth A. , Kyine Mi , Uhlmann Wendy , Glover Thomas W. 
Published: June 2005

AbstractWe describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated.
A review of phenotype‐karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2
Authors: Ramer Jeanette C. , Ladda Roger L. , Frankel Carl A. , Beckford Avril 
Published: June 2005

AbstractWe report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion. Nine cases of deletions involving other segments of chromosome 2q are reviewed. Common manifestations of the 2 groups include small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.
Chromosome 10qter deletion syndrome: A review and report of three new cases
Authors: Wulfsberg Eric A. , Weaver Ramona P. , Cunniff Christopher M. , Jones Marilyn C. , Jones Kenneth Lyons 
Published: June 2005

AbstractWe report on three patients with terminal deletions of chromosome l0q and compare them to 15 previously reported patients. A similar facial appearance with a prominent beaked nose, large and/or malformed ears, and a pattern of major abnormalities including severe mental retardation, cardiac anomalies, and anogenital anomalies are reviewed. We feel the manifestations of del l0qter are sufficiently distinct to suggest this diagnosis on clinical examination.
Omodysplasia
Authors: Maroteaux P. , Sauvegrain J. , Chrispin A. , Farriaux J. P. 
Published: June 2005

AbstractThree cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. The complex skeletal abnormalities consist of a defect of growth of the distal end of the humerus, a hypoplastic everted condyle, an upper radioulnar diastasis, and a anterolateral dislocation of the head of the radius. The condition is dominantly inherited.Two other cases with the same facial anomalies and osteoarticular abnormalities of the upper limbs are described. These cases also showed a severe micromelic dwarfism due to shortness of the long bones, particularly the femora. The present authors consider that these represent variable expressivity of the same disorder and propose that this condition be called omodysplasia (from the Greek term for humerus).
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13)
Authors: Krüger Gabriele , Götz Jürgen , Kvist Ulrich , Dunker Helmut , Erfurth Fritz , Pelz Lothar , Zech Lore 
Published: June 2005

AbstractWe report on cases of Greig syndrome segregating in a large kindred over four generations due to reciprocal translocation t(6;7)(q27;p13) and on a patient from this pedigree with a severe malformation syndrome due to duplication 7(pl3→pter). The clinical findings are discussed as possible consequence of a gene mutation due to the break at 7pl3.
Megalocornea and mental retardation syndrome: A new case
Authors: Grønbech‐Jensen Michael 
Published: June 2005

AbstractWe report on a new case of the megalocornea mental retardation syndrome, first described by Neuhäuser et al. [1975]. Our patient had mental and motor retardation, megalocorneae, short stature, congenital hypotonia, frontal bossing, micrognathia, a cafe‐au‐lait spot, and ear anomalies. A literature survey is provided.
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz–Majewski syndrome
Authors: Chrzanowska K. H. , Fryns J. P. , Krajewska‐Walasek M. , Van den Berghe H. , Wisniewski L. 
Published: June 2005

AbstractHere we report a 10 year‐old mentally retarded, deaf boy with a unique pattern of anomalies: progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes. He represents a variant example of “hyperostotic dwarfism” as delineated by Lenz and Majewski.
Prevalence of lethal osteochondrodysplasias in Denmark
Authors: Andersen Poul Erik 
Published: June 2005

AbstractThe point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of achondrogenesis type III, and three cases of achondrogenesis type IV were found. Two cases were unclassifiable due to lack of radiographs. In total, the point prevalence at birth was 15.4 per 100,000. Thus lethal Osteochondrodysplasias seem to be more common than is generally assumed.The clinical and radiographic findings in micromelic bone dysplasia with cloverleaf skull are discussed in relation to thanatophoric dysplasia and achondrogenesis type IV.
Confirmation of prenatal diagnosis of sex chromosome mosaicism
Authors: McFadden D. E. , Kalousek D. K. 
Published: June 2005

AbstractPrenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally.We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.
Prenatal diagnosis of a large heteromorphic region in a chromosome 5: Implications for genetic counseling
Authors: Fineman Robert M. , Issa Bonnie , Weinblatt Vivian 
Published: June 2005

AbstractWe performed an amniotic fluid chromosome study at 16 weeks of gestation because of advanced maternal age. G‐band chromosome analysis demonstrated that one 5q was significantly longer than its homologue. The region subjacent to the centromere appeared similar to a 9qh region. Subsequent Giemsa‐11 and C‐band staining results of this area were positive. Cytogenetic studies in this family demonstrated several other individuals who have the same chromosome 5qh+ as the proposita. All are asymptomatic. The clinical insignificance of the chromosome heteromorphism in this family readily demonstrates the need for special cytogenetic and family chromosome studies before performing genetic counseling.
Interstitial deletion of the proximal long arm of chromosome 4 associated with father‐child incompatibility within the Gc‐ system: Probable reduced gene dosage effect and partial piebald trait
Authors: Yamamoto Yoshifumi , Nishimoto Hiroshi , Ikemoto Shigenori 
Published: June 2005

AbstractGc‐system typing by isoelectric focusing polyacrylamide gel electrophoresis and quantitative assays were carried out on a patient with a karyotype of 46,XY,del(4)(q12q21.1) and on his parents with normal chromosomes. Although a father‐child incompatibility within the Gc‐system suggested that its locus is on segment 4q12‐13, the serum concentration of vitamin D binding protein in the patient and his father were only about half of that of his mother and control individuals. The possibility of interference of a silent allele in the child could not be excluded. Associated congenital partial leukodermia appeared to be an expression of a partial piebald trait.
Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution
Authors: Ocrant Ian , Bangs Charles D. , Johnston Kathreen M. , Wilson Darrell M. , Hintz Raymond L. , Rosenfeld Ron G. , Donlon Timothy A. 
Published: June 2005

AbstractAn unusual form of X chromosome aneuploidy, 47,XX,psu dic(X)(p11.2), was found during an evaluation for short stature of a prepubertal girl. Unlike 45,X, 47,XXX, 48,XXXX, and 49,XXXXX females, this patient is phenotypically normal except for her short stature, which appears to be unrelated to her chromosome abnormality. X chromosome inactivation studies disclosed inactivation (late replication) of one normal X and the abnormal X chromosome in all cells examined from this patient. Therefore, she is disomic for early‐replicating distal Xp loci, found in inactivated X chromosomes, and thought to remain active after lyonization. These data suggest that the presence of three or more copies of the early‐replicating, active Xp loci may be responsible for the cognitive deficits and other phenotypic abnormalities seen in polysomy X females.
Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome
Authors: Nicholls Robert D. , Knoll Joan H. , Glatt Karen , Hersh Joseph H. , Brewster Thomas D. , Graham John M. , Wurster‐Hill Doris , Wharton Robert , Latt Samuel A. 
Published: June 2005

AbstractRestriction fragment length polymorphisms (RFLPs) are described in detail for 6 DNA probes (D15S9–13, D15S18) that localize to the proximal long arm of human chromosome 15 (15q11–15q13: this report and Tantravahi et al., Am. J. Med. Genet. 33:78–87. Multiple RFLPs are detected by the probe that identifies locus D15S13, and these RFLPs are shown by genomic mapping to result from a nearby insertion or deletion of 1.8 kilobases (kb) of DNA. This set of RFLPs detected by proximal 15q probes can be used for studies on the Prader‐Willi syndrome (PWS) and on mentally retarded individuals with a supernumerary inv dup(15) chromosome. Five of the polymorphic loci (D15S9–13) map to the region implicated in the cause of the PWS (15qll.2–15q12). Each of 4 families tested with these probes, as well as an additional “PWS‐like” patient, was informative by RFLP analysis. The two PWS deletions studied, which occurred de novo, were inherited from the chromosome 15 provided by the father. By contrast, the 2 inv dup(15) chromosomes analyzed were of maternal origin. The use of RFLPs can also simplify the molecular determination of copy number in chromosomal aneuploidy, as exemplified by analysis of individuals with the PWS and a deletion, patients with an inv dup(15), and one patient with a more complex rearrangement involving chromosome 15. Our studies demonstrate the application of DNA probes for both molecular cytogenetic studies on this chromosome region and the development of diagnostic molecular markers to aid early clinical diagnosis of the PWS.
Alagille syndrome associated with Moyamoya disease
Authors: Rachmel Avinoam , Zeharia Avraham , Neuman‐Levin Margalit , Weitz Raphael , Shamir Raanan , Dinari Gabriel 
Published: June 2005

AbstractA 22‐month‐old girl with the typical manifestations of Alagille syndrome presented with acute right hemiparesis. Cerebral angiographic studies demonstrated the presence of complete occlusion of both internal carotid arteries with the formation of a collateral network of vessels compatible with the diagnosis of Moyamoya disease. This rare association has not been reported previously.
Molecular diagnosis of the fragile X [Fra (X)] syndrome: Calculation of risks based on flanking DNA markers in small phase‐unknown families
Authors: Bridge Peter J. , Lillicrap David P. 
Published: June 2005

AbstractWe studied two small, two‐generation families with the fragile X [Fra (X)] syndrome. The absolute phase of the DNA markers in relation to the disease in the mother was not known in either family. We present the derivation of risks for these families using flanking markers, taking into account the uncertainty regarding maternal phase. Since the use of flanking markers fails to yield useful counseling data in the ⅓ to ½ of all cases where a single recombination event occurs between the two flanking markers, we calculate the probability that this method is likely to be successful or unsuccessful when prenatal diagnosis is attempted using linked RFLPs.
Effect of framing on the perception of genetic recurrence risks
Authors: Shiloh Shoshana , Sagi Michal 
Published: June 2005

AbstractIndividuals asked to evaluate genetic recurrence risks were found to be influenced bythe way the risks were framed Presenting a single risk figure resulted in overweightingof low probabilities and underweighting of high probabilities, as compared to presentinga list of sequential risks. Differences werealso found between meanings attached to verbal expressions of risks when translating from verbal to numerical expressions, and vice versa. The implications of these findings for genetic counseling are discussed.