bluuebunny/crossref_metadata_2025_split huggingface dataset:
Individual variation and specific cognitive deficits in the fra(X) syndrome
Authors: Theobald Theresa M. , Hay David A. , Judge Cliff , Opitz John M. 
Published: June 2005

AbstractMental retardation has been associated with fra(X) but comprehensive psychological evaluation has rarely been applied to 2 major behavioral questions 1) the extent of individual variation in IQ among fra(X) males and the possibility of some fra(X) males being of normal IQ; and 2) whether there is a depression in general IQ or whether specific abilities are impaired. The problems of developing an effective battery of tests for assessing fra(X) are discussed.These questions were examined in 54 individuals, comprising fra(X) males, their obligate carrier mothers and those sisters shown to have the fra(X). Among noninstitutionalised males nonverbal IQ as measured on a Block Design test ranged from 100 to 0, and vocabulary scores while generally higher, ranged from 79–33. The males scored low on a digit span memory task, while performance on a memory of objects task was adequate. Despite lower overall scores, a similar pattern and variability emerged in institutionalised males. Daughters were extremely variable in performance and the mothers performed much better, supporting the view that women who have children are a selected subset of fra(X) syndrome individuals.The performance of one male is discussed in detail. His vocabulary and nonverbal IQ scores were normal, despite his having other specific cognitive deficits. The pattern of abilities and behavior seen in fra(X) may result in an overestimation of intelligence and underestimation of penetrance when based on clinical impressions rather than formal psychological assessment. The implications of this for molecular and for population genetic approaches to fra(X) are discussed.
A genetic follow‐up study of 64 patients with the Pierre Robin complex
Authors: Sheffield L. J. , Reiss J. A. , Strohm K. , Gilding M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA genetic follow‐up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23‐year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin complex.
Diprosopus with associated malformations: Report of two cases
Authors: Pavone Lorenzo , Camera Gianni , Grasso Sebastiano , Gambini Claudio , Barberis Mauro , Garaffo Salvo , Russo Sebastiano , Neri Giovanni 
Published: June 2005

AbstractWe report on two patients with craniofacial duplication and anencephaly. In addition to these anomalies, one patient showed vertebral fusion and diaphragmatic hernia, and the other one presented cheilognathopalatoschisis.
Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course
Authors: Hunter Alasdair G. W. , Jimenez Carmencita L. , Carpenter Blair F. , MacDonald Ian , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractInfantile neuroaxonal dystrophy (IND) is a well‐established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre‐ or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits. Both boys died in infancy with pathological changes compatible with IND. The somewhat different clinical course in these brothers leaves open the possibility that this is a variant of neuroaxonal dystrophy due to an X‐linked recessive mutation.
Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Authors: Hebert Adelaide A. , Charrow Joel , Esterly Nancy B. , Fretzin David F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractUncombable or spun‐glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is “unmanageable” and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance ahas been observed, most cases have been sporadic. Both receissive and dominant transmission with incomplete penetrance have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance.We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposital and her brother had characterisstically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominnat transmission and complete penetrance of the gene in this family.
Decreased superoxide dismutase‐2 activity in a patient with ring chromosome 6
Authors: Yoshimitsu Kazunori , Nishi Yoshikazu , Kobayashi Yohnosuke , Yoshimura Osamu , Ohama Koso , Oguma Nobuo , Usui Tomofusa , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractManganese superoxide dismutase (SOD‐2) activity was measured in erythrocytes and leukocytes of a patient with ring chromosome 6. Compared to normal control individuals, SOD‐2 activity in leukocytes of the patient was lower, whereas cuprozinc SOD (SOD‐1) activity was normal. These findings suggest the cause of decreased enzyme activity is the effect of the ring form on production of the enzyme or inherent instability of ring chromosomes.
Limb body wall complex: I. Pathogenesis
Authors: Van Allen M. I. , Curry C. , Gallagher L. , Reynolds James F. 
Published: June 2005

AbstractTwenty‐five fetuses with limb body wall complex (LBW complex) were evaluated. The diagnosis was based on two out of three of the following: exencephaly/ encephalocele with facial clefts; thoraco‐ and/or abdominoschisis; and limb defect. Ninety‐five percent (24/25) of the fetuses had associated internal structural de‐fects. In 72% (18/25) the internal defects have been recognized as being secondary to vascular disruption. Concordance was not found between the side and location of the body wall defect versus the limb, internal, and cranial defects. In 85% there was evidence for persistence of the extraembryonic coelom by examination of the placenta. In this same group (85%) there was persistence of the ectodermal‐amnion margin, with the amnion being continuous with the skin of the body wall defect. In 40% (10/25) there were tags and amniotic adhesions at other sites. There was no difference in the types or incidence of internal defects between those with and those without amniotic bands.The abnormalities in this collection and experimental animal models support vascular disruption during 4‐6 weeks' gestation as an etiology for LBW complex. There is disruption and loss of existing tissues, persistence of embryonic structures, and secondary malformations. Persistence of the extraembryonic coelom may lead to the typical amniotic tags, ring constrictions, and adhesions seen in some specimens.
Plasma immunoreactive β‐melanocyte stimulating hormone (lipotro‐pin) levels in individuals with prader‐labhart‐willi syndrome
Authors: Butler Merlin G. , Jenkins Bonnie B. , Orth David N. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractPlasma immunoreactive β‐melanocyte‐stimulating hormone (β‐MSH) levels, which actually represent the combined concentrations of β‐lipotropin (β‐LPH) and γ‐LPH in normal individuals, were measured in 12 patients (6 males and 6 females with an average age of 16.8 years, range 4 months to 27 years) with the Prader‐Labhart‐Willi syndrome (PLWS). Five patients were previously identified with high‐resolution analysis as having the 15q chromosomal deletion, whereas 7 patients had normal chromosomes. Hypopigmentation was observed in all 5 patients with the 15q deletion. Of the 7 individuals with normal chromosomes, two were hypopigmented and 5 had normal pigmentation. Fasting (6 to 12 hours) plasma samples were analyzed for immunoreactive β‐MSH in the 12 PLWS individuals. Plasma immunoreactive β‐MSH (LPH) levels were within the normal range in all 12 individuals. There was no significant difference in the plasma immunoreactive β‐MSH concentrations between patients who did and did not have the chromosomal deletion or in those who were or were not hypopigmented. Thus, a decrease in circulating plasma immunoreactive β‐MSH (LPH) does not appear to be the cause of the hypopigmentation observed in some patients with PLWS.
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: Similarities to a report of aldolase a deficiency
Authors: Hurst J. A. , Baraitser M. , Winter R. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a brother and sister with mental retardation, short stature, delayed puberty, spherocytic anemia, and an abnormal facial appearance. The similarities to a child with aldolase A deficiency are discussed.
Use of the G8 probe in predicting risk of Huntington disease
Authors: Maestri Nancy E. , Beaty Terri H. , Folstein Susan E. , Meyers Deborah A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDiscovery of the linkage between the G8 probe and the gene for Huntington disease (HD) in families of varying ethnic origin, age‐of‐onset characteristics, and neurological symptomatology, makes it possible to use the G8 marker for presymptomatic testing of at‐risk individuals. Risk estimates for such situations were calculated, using the program LIPED, with different G8 haplotype frequencies, different age‐of‐onset distributions, and varying amounts of family information. In the presence of untyped relatives, the resulting risk estimates can be extremely sensitive to G8 haplotype frequencies, and the higher risk was seen in individuals carrying rare haplotypes. Including haplotype information on distant relatives can also lead to greater variation in risk estimates. Changing the age‐of‐onset distribution had only a minimal effect on estimated risks; the largest effect was seen when informative at‐risk sibs of the consultand were in their forties.
A professional partnership with genetic support groups
Authors: Black Rita Beck , Weiss Joan O. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractVoluntary, lay genetic support groups have become important providers of supportive, educational, and social services for clients and families who face genetic disorders. A survey of 88 persons representing genetic support groups confirms that these organizations are providing their members with information and assistance about not only the genetic aspects of the disorders but also problems of daily living. Respondents noted that professionals frequently refer patients to their groups and that many of the groups have professionals working directly with them as guest lecturers, consultants, and advisory board members. At least 20% cited a lack of genetic counseling services for members of their groups as a serious problem and called for greater sensitivity to emotional concerns in the timing and delivery of genetic counseling by professionals. Respondents called for greater collaboration between the voluntary organizations and professionals but underscored the unique benefits of empathy and support from one's peers.
Update on counseling the family with a first‐degree relative with a congenital heart defect
Authors: Nora James J. , Nora Audrey Hart , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractUpdated recurence risks figures are presented for genetic counseling of families with a congenital heart defect (CHD) in a first‐degree relative.Substantial changes are recommended for counseling the family in which a parent has CHD. The risk is much greater if it is the mother rather than the father who has the heart defect. The updated figures for recurrence risks in sibs have been revised, but are not greatly changed. Our central tenet in counseling is to base risk projections on the genetic and teratogenic history in the individual family and pregnancy.
Paracentric inversion of Xq and ovarian dysfunction
Authors: Dar Hanna , Tal Joseph , Bar‐el Hanna , Halpern Isachar , Sharf Mordechai , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a paracentric inversion X(q13 q24) in a 20‐year‐old woman with ovarian dysfunction. The findings add evidence on the role of breakpoints in Xq13 and Xq24 in causing ovarian dysfunction. A review of the published data on paracentric inversion of chromosome X is included.
Acrofacial dysostosis with postaxial limb deficiency
Authors: Fryns J. P. , Van den Berghe H. , Reynolds James F. 
Published: June 2005

AbstractHere we report on an adult man with the postaxial acrofacial dysostosis syndrome, as delineated by Miller et al [1979]. In addition to facial changes strikingly similar to that of the Treacher‐Collins syndrome and a cleft soft and hard palate, symmetrical postaxial limb deficiencies with absence of the fifth digital rays in both the upper and lower limbs were present.
Localization of the gene for X‐linked nephrogenic diabetes insipidus to Xq28
Authors: Kambouris Marios , Dlouhy Stephen R. , Trofatter James A. , Conneally P. Michael , Hodes M. E. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractX‐linked nephrogenic diabetes insipidus (NDI) was segregating in a large Indiana family. It was tested for linkage of the NDI gene to X‐chromosome molecular markers. Maximum lod scores of 3.15 and 3.01 (θ=0) obtained for the molecular markers F8A (F8C) and DXS15 (DX13) respectively, indicate that the NDI gene is located in Xq28. A lod score of 3.61 (θ=0) was obtained with multipoint linkage analysis of F8A and DXS15.
Congenital scalp skull defects with distal limb anomalies (Adams‐Oliver syndrome—McKusick 10030): Further suggestion of autosomal recessive inheritance
Authors: Koiffmann C. P. , Wajntal A. , Huyke B. J. , Castro R. M. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a man with manifestations of the Adams‐Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first‐cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discussed.
Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams‐Oliver syndrome?
Authors: Toriello Helga V. , Graff Russel G. , Florentine Michael F. , Lacina Samuel , Moore W. David , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a boy with congenital scalp and limb defects, consistent with a diagnosis of Adams‐Oliver syndrome (aplasia cutis congenita with terminal transverse limb defects). An additional finding present in this child and in his mother was cutis marmorata telangiectatica congenita. Although this boy fits the diagnostic criteria for Adams‐Oliver syndrome, his mother does not. We discuss whether this condition is highly variable, or heterogeneous.
Ichthyosis and neutral lipid storage disease
Authors: Musumeci Salvatore , D'Agata Alfonsina , Romano Corrado , Patané Rosario , Cutrona Domenico , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractA boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin‐Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.
45,X/46,XY Mosaicism. Contrast of prenatal and postnatal diagnosis
Authors: Wheeler M. , Peakman D. , Robinson A. , Henry G. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth—18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 31/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.
Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs
Authors: Da‐Silva Elias O. , Reynolds James F. 
Published: June 2005

AbstractThis study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed.
Variability of the Holt‐Oram syndrome in Saudi individuals
Authors: Najjar Haitham , Mardini Mohamed , Tabbaa Rashed , Nyhan William L. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe studied three families in which patients with the Holt‐Oram syndrome(HOS) had various skeletal abnormalities and congenital heart defects. Two patients had absent thumbs and first metacarpals, hypoplastic radii, and atrial and ventricular septal defects. Patient 2 had pulmonary stenosis, an atrial septal defect, and triphalangeal thumbs. A sister had atrial septal defect and abnormalities of the thumbs; two brothers had abnormalities of the thumbs. The mother had unilateral defect of the thumb with a normal heart. The third patient had tetralogy of Fallot and hypoplastic pulmonary artery. In two families the HOS appeared to be the result of new mutations; in one it was transmitted as an autosomal dominant trait.
Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)
Authors: Herman Gail E. , Greenberg Frank , Ledbetter David H. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present a case of terminal del(22q) with Goldenhar complex including hemifacial microsomia, bilateral epibulbar dermoids, preauricular tags with sensorineural hearing loss, vertebral anomalies, and CNS and renal malformations. The case illustrates causal heterogeneity of the Goldenhar complex and a previously unreportcd associated chromosome deletion.
Fragile‐X mutation and Klinefelter syndrome: A reappraisal
Authors: G. Filippi , V. Pecile , A. Rinaldi , M. Siniscalco 
Published: June 2005

AbstractTo date the concurrent presence of the fragile‐X and the Klinefelter syndromes in the same individual has been found at least 8 times either in the course of screening for the fra(X) condition in mentally retarded males or among the relatives of fra(X) propositi. Given the high frequency of both events in the general population and the heterogeneous approaches with which the above cases were ascertained, it has not been possible to determine unequivocally so far whether the finding is purely coincidental or the expression of some underlying biological relationship. To evaluate the issue, we have screened a large population of institutionalized mentally retarded males for microorchidism, and submitted to a full karyotype analysis and fra(X) testing the patients that were found to have marked bilateral microorchidism. Thus, in a total of 32 microorchidism patients identified among 1115 mentally retarded males, we found 6 to have a 47,XXY chromosome complement in all (or in most) of their cells, with one of them having also the fra(X) marker in 9% of the metaphases examined. In addition, another bearer of the fra(X) marker (but only in 4% of his metaphases) was found among 26 47, XXY mentally normal males ascertained throughout routine cytogenetic analysis of males with microorchidism referred to our genetic counseling unit during the last 10 years. In our laboratory the fra(X) marker has never been observed with such a frequency inatotal of several hundred normal XY males and XX females studied as control cases in the course of previously reported family and population studies. Taken at their face value, the present findings suggest that the incidence of the fra(X) marker among mentally retarded 47, XXY males (and possibly among 47, XXY individuals in general) is several fold greater than the incidence reported, for XY males and XX females. One of the most economical inter pretations of these observations is that heterozygosity for the fra(X) mutation may be a major cause of meiotic X chromosome non‐disjunction. If confirmed, this attractive hypothesis is likely to provide new clues for investigating the biology of the fra(X) mutation and its relationship ‐ if any ‐ with the mechanisms of normal and aberrant meiosis.
The concurrence of Klinefelter syndrome and fragile X syndrome
Authors: Fryns Jean‐Pierre , Berghe Herman Van Den 
Published: June 2005

AbstractIn this paper we report on a third patient with Klinefelter syndrome and fragile X. In the Leuven experience the simultaneous occurrence of both conditions is 1:155 (3 fra(X) positive Klinefelter patients in a total number of 465 fra(X) positive males), a concurrence much higher than expected by chance considering the frequency of both conditions.
The predictive value of dermatoglyphic anomalies in the diagnosis of fra(X)‐positive Martin‐Bell syndrome (MBS)
Authors: Langenbeck Ulrich , Varga Isabell , Hansmann Ingo 
Published: June 2005

AbstractIn a representative group of 160 institutionalized mentally retarded males without Down syndrome, prospective dermatoglyphic‐cytogenetic studies were performed in order to assess the utility of the dermatoglyphic index system of Rodewald [1986] for an efficient ascertainment of patients with Martin‐Bell syndrome (MBS). A negative (abnormal) score was found in 32 men (20 ± 3%), 14 of whom (predictive value: 44 ± 9%) were fra(X)‐positive. This prevalence of 14/160 = 9 ± 2% patients with fra(X)‐positive MBS indicates that in our study most, if not all, MBS patients have been detected by the simple pre‐screening of dermatoglyphics. In the MBS patients, there was no correlation between the dermatoglyphic scores and percentage of fra(X)‐positive cells.