bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hyperlaxity in males with Melnick‐Needles syndrome
Authors: Fryns J. P. , Schinzel A. , Van den Berghe H. , Reynolds James F. 
Published: June 2005

AbstractHere we report on a boy with Melnick‐Needles syndrome. He presented extreme hyperlaxity of skin and joints, suggesting that this syndrome is another example of a generalized connective tissue disorder.
Parental decision following prenatal diagnosis of fetal chromosome abnormality
Authors: Verp Marion S. , Bombard Allan T. , Simpson Joe Leigh , Elias Sherman , Reynolds James F. , Hall Judith G. 
Published: June 2005

AbstractIn the event of prenatal diagnosis of fetal chromosome abnormality, parents must choose between continuation and termination of the pregnancy. To determine whether parents are capable of understanding differences in severity among aneuploidy syndromes, we examined the outcome chosen for all pregnancies in which a fetal chromosome disorder was diagnosed at Northwestern Memorial Hospital between January, 1977 and June, 1986. Among amniocentesis cases, 88% with autosomal aneuploidy were terminated, but only 41% with sex chromosome abnormalities and none with de novo structural rearrangements were terminated. Among a smaller group of chorionic villus sampling cases, all with abnormal results were terminated. Similar patterns of parental behavior were noted in other prenatal diagnosis units. We conclude that parents do distinguish among, and respond specifically to, fetal chromosome disorders of differing severity, at least in the second trimester of pregnancy. However, parents appear more inclined to terminate all pregnancies with chromosome abnormalities when the diagnosis has been made in the first trimester.
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family
Authors: Kaplan Bernard S. , Kaplan Paige , de Chadarevian Jean‐Pierre , Jequier Sigrid , O'Regan Sean , Russo Pierre , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractBlyth and Ockenden [1971] assigned patients with autosomal recessive polycystic kidney disease (ARPCKD) to 4 discrete groups (perinatal, neonatal, infantile, juvenile) on the basis of the age of presentation. They and others speculated that at least 4 genes were responsible for what they considered to be closely related, but different conditions. These views have gained wide but not universal acceptance. Some workers have insisted that the perinatal and neonatal “forms” of ARPCKD differ fundamentally from the juvenile “form.” However, others have proposed that ARPCKD‐CHF (congenital hepatic fibrosis) and CHF‐ARPCKD are manifestations of the same disease with variation of expression in a kindred.We report on a patient who presented at birth (1979) with ARPCKD and respiratory distress. He died at 18 hr. An older sib presented at 16 yr in 1984. She had no symptoms, but her mother wanted reassurance that the daughter did not have a condition similar to that of the deceased sib. Blood pressure was 120/80 mm Hg and there was hepatosplenomegaly. A diagnosis of renal tubular ectasia and CHF was made by ultrasonography, radiologic studies, and a liver biopsy.The evidence from families such as this favors the concept that ARPCKD and CHF presenting as Blyth and Ockenden's perinatal form, and CHF and renal tubular ectasia as their juvenile form, are manifestations of the same genetic disorder, and that the different manifestations are more likely variations in expression than the results of different mutant genes.The manifestations in this family add weight to the growing body of evidence that intrafamilial variability may occur, not only in autosomal dominant conditions, but also in autosomal recessive disorders.
Diagnosis of classical steroid 21‐hydroxylase deficiency using an HLA‐B locus‐specific DNA‐probe
Authors: Killeen Anthony A. , Seelig Steven , Ulstrom Robert A. , Orr Harry T. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe HLA‐B and steroid 21‐hydroxylase loci are known to be closely linked. Restriction fragment length polymorphisms seen after digestion of genomic DNA with MspI and TaqI with the HLA‐B locus‐specific DNA‐probe, pHLA‐1.1, were examined in 7 nuclear families with classical steroid 21‐hydroxylase deficiency. In each family 2 polymorphic hybridizing bands (corresponding to the 2 HLA‐B genes) were seen. In all families, TaqI‐generated polymorphisms allowed for Identification of children previously shown on clinical and biochemical criteria to be affected by 21‐hydroxylase deficiency from their unaffccted sibs. The results were in complete agreement with the clinical diagnoses. Among the unaffected children, carriers could be distinguished from non‐carriers in all cases by TaqI polymorphisms. MspI‐geqerated polymorphisms allowed for full identification of genotypes in 5 families. In one family, MspI‐generated polymorphisms could be used to identify affected from unaffected children, but could not distinguish between carriers and non‐carriers. In another family, no identification of genotypes was possible by MspI‐generated polymorphisms alone.The HLA‐B locus‐specific DNA‐probe, pHLA‐1.1, can be used for diagnosis and genotyping of individuals from families with 21‐hydroxylase deficiency. This technique can be used as an alternative to HLA‐serotyping, or in situations where HLA‐serotyping is technically difficult, for example in chorionic villus samples.
Interstitial deletion 13q. Further delineation of the syndrome by clinical and high‐resolution chromosome analysis of five patients
Authors: Tranebjaerg Lisbeth , Nielsen Karen Brøndum , Tommerup Niels , Warburg Mette , Mikkelsen Margareta , Reynolds James F. 
Published: June 2005

AbstractFive patients with interstitial deletion 13q are reported. High‐resolution chromosome banding established the diagnosis in two cases and stated the exact breakpoints in three remaining cases. All parents had normal chromosomes. An unequal and so far unexplained sex ratio of previously published and present cases was found: M:F = 1:2.75. Moderate to severe growth retardation was prominent in all patients. The patients were followed with psychological tests and growth data for 3–10 years. Mild to moderate mental retardation was present. Considerable phenotypic similarities were found in two patients with del(13)(q21.33 q31.3) and one with del(13)(q14.3q22.3). Repeat ophthalmological examinations showed no evidence of retinoblastoma in a male with del(13)(ql3.1q21.1).In conclusion, the long‐term study of five patients with interstitial deletion 13q, all evaluated with high‐resolution banding, contributed to a more reliable mental and growth prognosis in such patients.
Decreased developmental stability as assessed by fluctuating asymmetry of morphometric traits in preterm infants
Authors: Livshits G. , Davidi L. , Kobyliansky E. , Ben‐Amitai D. , Levi Y. , Merlob P. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractFluctuating asymmetry (FA) of 8 morphometric traits was studied in 113 preterm infants (26–36 wk of gestation), 103 term infants (37–41 wk), and their respective parents. With 3 different measures of FA, the highest values were obtained from extremely preterm infants (26–29 wk), and the lowest from the group of term infants. The estimates of FA values among parents, particularly mothers, showed a similar, albeit less pronounced, trend. Multiple regression analysis of individual mean FA values, calculated in infants for the 8 studied bilateral traits, documented a significant inverse correlation with gestational age and with the health status of the infants and their mothers, as well as a positive correlation with the mothers' mean FA values.
Antley‐Bixler syndrome from a prognostic perspective. Report of a case and review of the literature
Authors: Escobar Luis F. , Bixler David , Sadove Michael , Bull Marilyn J. , Reynolds James F. 
Published: June 2005

AbstractThe Antley‐Bixler syndrome (ABS) is characterized by craniosynostosis, radiohumeral synostosis, and femoral bowing. Other findings include a trapezoid‐shaped head, deformed ears, severe midface hypoplasia, choanal atresiaor stenosis, and long bone fractures. Most ABS cases have died in the firstmonths of life from respiratory complications. The poor prognosis in this condition makes counseling difficult and early termination of pregnancy a consideration. The medical and surgical management information presented herecan be used as a guide for counseling parents in the future.We report on a new patient with ABS who now at age 3 yr, has been followed by the medical staff of Riley Children's Hospital since birth. She has had successful medical and surgical management.Although the multisynostoses seen in this disorder is undoubtedly related to the soft tissue malformations such as choanal stenosis and midface hypoplasia, the cause remains unknown. The literature is also reviewed in this condition.
Duplication 18p with mild influence on the phenotype
Authors: Johansson Bertil , Mertens Fredrik , Palm Lars , Englesson Irmelin , Kristoffersson Ulf , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractDuplication I8p was found in a 12‐year‐old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti‐mongolian eye slant, low‐set ears, and narrowly arched palate. These findings are compared with eight previously published cases.
IVIC Syndrome. Report of a second family
Authors: Sammito V. , Motta D. , Capodieci G. , Sanfilippo S. , Neri G. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe IVIC syndrome derives its name from the Institute Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am JMed Genet 6:25–59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation shows that the IVIC syndrome is not a private syndrome, and confirms that it is due to an autosomal dominant mutation.
Maternal age‐specific rates for down syndrome: Changes over time
Authors: Baird P. A. , Sadovnick A. D. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThere have been conflicting reports about whether incidence rates at given maternal ages for Down syndrome (DS) are changing over time. British Columbia provides an excellent opportunity to look at this question as there is 1) nearly complete ascertainment of DS livebirths, 2) a relatively large number of annual births, 3) data on a 20‐year time period, 4) data on age‐specific fertility rates over this period, and 5) cytogenetic data on all pregnancies terminated through the provincial prenatal diagnosis program since its inception.Data on 856 liveborn DS infants over a 20‐year period (1964–1983) were analyzed. Controlling for maternal ages, the data were examined for transient changes in incidence over time and for linear and cyclic trends. No significant (P>0.05) changes in DS incidence were observed over this 20‐year period in any maternal age group.
Early manifestations of the Martin‐Bell syndrome based on a series of both sexes from infancy
Authors: Hockey A , Crowhurst J 
Published: June 2005

AbstractA small series of male and female fra(X) positive children is reviewed retrospectively clinically and photographically to identify a profile of age‐related manifestations and behavioral traits of predictive value.This method involves a crossmatch with the cases and trait lists in the POSSUM Data Base. The plan then is to test the sensitivity and specificity in a prospective series. If this proves reliable, a request for a fra(X) cytogenetic analysis could be limited to the clinically screened matching cases, rather than the present costly exercise of testing all undiagnosed intellectually handicapped children.
Fragile X syndrome: Growth, development, and intellectual function
Authors: Prouty Leonard A. , Rogers R. Curtis , Stevenson Roger E. , Dean Jane H. , Palmer Kim K. , Simensen Richard J. , Coston Gale N. , Schwartz Charles E. 
Published: June 2005

AbstractWe collected data on growth, psychomotor development, speech and language development, and intellectual function on a cohort of 100 males with the fragile X chromosome and 95 carrier females. The data include information on prenatal growth (33 males), growth during the preadult years (32 males), psychomotor development during the first 2 years (25 males), speech and language development (15 males and 5 females), and intellectual function (93 males, 33 females, and 10 obligate carriers who were cytogenetically normal). Birth measurements appeared normal when plotted on the Usher/McLean curves of newborn infants (mean head circumference ‐ OFC ‐ at 40th centile, length at 60th centile and weight at 55th centile). Following birth, OFC rose above the 50th percentile and continued above average throughout the preadult years, whereas average length was above average for the first 5 years only and weight did not deviate from the normal mean. Psychomotor development lagged behind the norm from birth with affected males requiring nearly twice as long as expected to sit alone, walk unassisted, and say first words clearly. All males and females studied had significant language delay; all except one male had abnormalities of articulation. All on whom a clear voice sample was obtained had low voice pitch, and 80% had a hoarse or harsh quality of voice. Five males had word repetitions or perseverative speech during the preadult years. The mean IQ of the 93 males studied was 33 and regression analysis demonstrated a decrease in intellectual performance with age. Four fifths of the female carriers who expressed the fra(X) had intell‐ectual performance in the mentally retarded range and showed similar decrease in performance with age. Obligate female carriers who did not express the fra(X) site had normal IQs (IQ 102 ± 13.3).
Case report: Fragile X syndrome and nephrogenic diabetes insipidus
Authors: Suthers G. K. , Turner G. , Mulley J. C. 
Published: June 2005

AbstractWe describe a man with the fra(X) syndrome and nephrogenic diabetes insipidus. The disease loci for both conditions are in the region Xq27.3–q28. This is the first report of the fra(X) syndrome associated with another X‐linked disorder. Analysis of DNA markers suggested that the association in this man was coincidental.
A new syndrome with mental retardation, short stature and an Xq duplication
Authors: Thode A. , Partington M. W. , Yip M‐Y , Chapman C. , Richardson V. F. , Turner G. 
Published: June 2005

AbstractWe describe a new X‐linked syndrome of marked short stature, severe intellectual handicap and an unusual facial appearance. High resolution prometaphase banding showed affected males to have an X chromosome tandem duplication; their karyotypes were designated 46, dup(X)(q13.1–q21.1)Y. In carrier females the abnormal X chromosome was late replicating. To verify the duplication, gene dosage studies were performed using an enzyme assay and DNA techniques. Prenatal diagnosis is available for carrier females using chromosome analysis of amniocytes or chorionic villi.
X‐linked mental retardation associated with psoriasis: A new syndrome?
Authors: Tranebjærg Lisbeth , Svejgaard Arne , Lykkesfeldt Gert 
Published: June 2005

AbstractFour males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis.Due to the relationship between the affected males we propose the inheritance to be X‐linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of cytogenetic studies, including fra (X) and high‐resolution prometaphase analysis, were negative. Steroid sulfatase activities of cultured fibroblasts from 2 surviving affected males were normal. The results of HLA typing of all available relatives did not indicate a strong association between the skin disorder and certain HLA antigens. A healthy sister, who may be heterozygous carrier of the mutant X chromosome, decided on termination of 3 successive pregnancies after prenatal male sex determinations. Her fourth pregnancy with a female fetus is ongoing.
Recent experience in prenatal fra(X) detection
Authors: Jenkins Edmund C. , Brown W. Ted , Krawczun Michael S. , Duncan Charlotte J. , Lele Kusum P. , Cantu Eduardo S. , Schonberg Steven , Golbus Mitchell S. , Sekhon Gurbax S. , Stark Sandra , Kunaporn Suphat , Silverman Wayne P. 
Published: June 2005

AbstractAt least 35 cases of prenatal fra(X) diagnosis have been confirmed and reported. Amniotic fluid, fetal blood and chorion ‐ic villus samples have exhibited fra(X) (q27.3) in cultures from 26 males and 9 females. Here we have detected fra(X) in female and male amniotic fluid specimens, AF1/fra(X),X and AF2/fra(X), Y, respectively, and a male CVS/fra (X), Y1 using both FUdR and excess thymidine (THY) to demonstrate the marker chromosome. Both FUdR and THY detected fra(X) and usually FUdR was superior to THY with the exception of placental cultures. It was important to examine more than one culture per protocol since no fra(X) was observed in one AF2 FUdR culture while another exhibited 19.2% expression. Similarly, confirmation studies in lung fibroblast cultures for AF2 exhibited 4.3% fra(X) in one 1ab while another found negative results. A similar observation in whole blood cultures was also made recently by us. In addition, we have recently experienced our first false negative fra(X), X prenatal diagnosis. We have observed another case where only one cellin 300 exhibited fra(X) where the male fetus was 50% at‐risk and was referred to us after the 20th week of gestation by sonography. On the basis of our experience we recommend the following: (1) the excess THY fra(X) induction system is effective but not superior to FUdR; (2) at least two duplicate cultures per induction system should be analyzed forthe marker chromosome to avoid the possibility of false‐negative diagnosis; (3) where fra(X) is not demonstrated or is present in very low frequencies in CVS and/or amniotic fluid cultures, complementary DNA marker studies and/or fetal blood cultures must be made available; (4) gestational age dating by ultrasonography is recommended as early as possible.
Constitutive fragile sites in fra(X) individuals
Authors: Jenkins Edmund C. , Lele Kusum P. , Krawczun Michael S. , Gross Anne C. , Duncan Charlotte J. , Brown W. Ted 
Published: June 2005

AbstractRecently, it was proposed that the constitutive fragile site at 3p14 be used as an “internal control” to indicate the effectiveness of the FUdR fragile site induction system. We have tested this hypothesis by determining the frequency of constitutive fragile sites at 1p31, 3p14, and 16q23 in cultures from 42 known fra(X) individuals. At least 50 cells were analyzed from each case. Seventy‐four percent (31/42), 95% (40/42) and 90% (38/42) of the fra(X) individuals exhibited frequencies of <4% at constitutive fragile sites 3p14, 1p31 and 16q23, respectively. Of the 42 individuals tested, 12 or 28.6% showed no fragility at any of the 3 sites studied. On the other hand, at least one constitutive fragile site was observed in 50 cells studied from over 70% of the 42 people studied. It is suggested that “positive controls” continue to be used, while at the same time recording all fragile sites to identify a combination of constitutive fragile sites that may serve as an internal control indicator, and that DNA marker studies be used to complement cytogenetic testing.
Is there a fragile(X) negative Martin‐Bell syndrome?
Authors: Thode A. , Laing S. , Partington M. W. , Turner G. 
Published: June 2005

AbstractDuring the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin‐Bell syndrome. The literature and 4 families previously thought to have the fra(X) negative Martin‐Bell syndrome were also reviewed. We were unable to make a concrete diagnosis of the fra(X) negative Martin‐Bell syndrome.
Linkage studies with the gene for an X‐linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
Authors: Sutherland G. R. , Gedeon A. K. , Haan E. A. , Woodroffe P. , Mulley J. C. 
Published: June 2005

AbstractA family in which a gene (MRX2) is segregating for an X‐linked syndrome of mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes and possible intra‐uterine growth retardation is described. There are 7 clearly affected males and one possibly affected infant in the family. The obligate carriers are normal. Linkage studies show a suggestion of linkage to loci near the centromere. The maximum lod score was 2.10 at =0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (=0.14; Ẑ=1.29) and DXS94 (=0.11; Ẑ=1.22).
A family with the Coffin Lowry syndrome revisited: Localization of CLS to Xp21‐pter
Authors: Partington M. W. , Mulley J. C. , Sutherland G. R. , Thode A. , Turner G. 
Published: June 2005

AbstractWe revisited a family with the Coffin‐Lowry syndrome (CLS) first reported by Procopis and Turner in 1972. Twelve affected members are now known in 3 generations of which 9 were seen personally. DNA marker studies supported X‐linkage with localization of CLS to Xp near DXS43 at p22.2‐22.1 (θ = 0.001, Z = 2.71). Such linkage is reinforced by positive lod scores for DXS28 (θ = 0.00, Z = 0.90) and for DXS84 (θ = 0.09, Z = 1.56). Recombination with DXS84 and DXS164 places CLS distal to DMD in Xp21–pter.
Probable localisation of the Coffin‐Lowry locus in Xp22.2‐P22.1 by multipoint linkage analysis
Authors: Hanauer A. , Alembik Y. , Gilgenkrantz S. , Mujica P. , Nivelon‐Chevallier A. , Pembrey M. E. , Young I. D. , Mandel J. L. 
Published: June 2005

AbstractThe Coffin‐Lowry syndrome (McKusick No. 30360) is a rare genetically transmitted disorder characterized by severe mental retardation, “coarse” facial appearance, thick soft skin, tapering fingers, and progressive skeletal abnormalities. X‐linked inheritance is implied since the males are severely affected with variably mild manifestations in carrier women. We have performed a linkage analysis with many X‐linked RFLP markers in 4 families. Positive two‐point lod scores were obtained with DXS28 (z(θ) = 2.00 at θ = 0.05) and DXS41 (z(θ) = 1.26 at θ = 0.10).We performed a 5‐point linkage analysis using the LINKMAP program assuming that DXS16 and DXS43 are a single locus and using the following fixed map (distances in centimorgans): DXS85 ‐ 18cM ‐ (DXS16, DXS43) ‐ 13cM ‐ DXS41 ‐ 5cM ‐DXS28.This gave a multipoint lod score of 3.41 for a localisation in Xp22.2‐p22.1, between DXS43 and DXS41.
Fragile X syndrome: Linkage analysis in black and white populations
Authors: Schwartz C. E. , Phelan M. C. , Brightharp C. , Pancoast I. , Howard‐Peebles P. N. , Thibodeau S. , Brown W. T. , Jenkins E. C. 
Published: June 2005

AbstractEleven white families and 10 black families have been studied to detect racial differences in the linkage of DNA markers flanking the fragile X site (FRAXA). The differences in the recombination fractions for F9‐FRAXA and DX13‐FRAXA were not significant. The pair St14‐FRAXA exhibited no difference between the two groups. Although the sample size was small, it would appear that these DNA markers can be used in black persons for prenatal diagnosis and genetic counseling. A larger group of families would be necessary to determine if 4D8 and cX55.7 will be equally useful since these appear to have lower heterozygote frequencies in the black population.