bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clitoromegaly in neurofibromatosis
Authors: Sutphen Rebecca , Galán‐Goméz Enrique , Kousseff Boris G. 
Published: June 2005

AbstractGenitourinary neurofibromas are rare and clitoral involvement in neurofibromatosis (NF) has been reported infrequently. However, when it occurs, clitoromegaly is often the presenting sign. In many cases, it is congenital. In 236 families with type 1 neurofibromatosis (NF‐1) evaluated through the USF Regional Genetics Program between January 1982 and September 1993, four patients had clitoral involvement. In three, involvement was limited to the clitoris. Biopsy/surgical excision in two of them showed a neurofibroma in one and non‐specific hamartomatous soft tissue overgrowth in the other. In the fourth patient, the involvement was asymmetric and extended to the labia majora and mons pubis. Endocrine studies and chromosomes in all patients were normal; there was no exposure to androgens, progestins, or coumadin. There was no gestational history of maternal luteomas. Review of the literature documented 26 patients with NF and clitoral involvement.Clitoral involvement in NF‐1 appears to be more common than previously reported and the differential diagnosis of ambiguous genitalia should include clitoromegaly due to NF. Pathogenesis of clitoral lesions appears similar to other lesions of NF. Biopsy of such lesions appears to be justified only when malignancy is suspected. © 1995 Wiley‐Liss, Inc.
Genetic, environmental, and phenotypic links between body mass index and blood pressure among women
Authors: Allison David B. , Heshka Stanley , Neale Michael C. , Tishler Peter V. , Heymsfield Steven B. 
Published: June 2005

AbstractGreater relative weight is associated with higher blood pressure, but the reasons are unknown. The inability of current technology to inducesustainedweight loss among overweight persons precludes experimental tests of whether this association is causal. We evaluated the degree to which thecovariationbetween body mass index (BMI; kg/m2) and blood pressure (BP) among women is due to pleiotropic genetic factors, environmental factors, or phenotypic causation. The sample included 75 monozygotic (MZ) and 39 dizygotic (DZ) pairs of adult female twins. “BP” was calculated as the unitweighted mean of systolic and diastolic. Data were analyzed through structural equation modeling. A model was specified stipulating that additive genetic effects (A) and unique environmental effects (E) each contributed to the covariance between BMI and BP, thus allowing for both pleiotropic and unique environmental influences on the covariance between BMI and BP. Dropping the pleiotropic influences significantly worsened the model (χ2= 4.62, df = 1,P= .032), suggesting significant pleiotropic effects. Dropping the environmental influences on the cross‐phenotype covariance did not significantly worsen the model (χ2= 1.42, df = 1,P=.233). This indicates no significant effect of the environment on the covariance between BMI and BP. Finally, a model of phenotypic causation in which BMI directly influenced BP was fitted. This model provided the best single parameter explanation of the BP‐BMI covariation. These data suggest that, among women, regardless of the source of variation, chaanges in BMI should lead to long‐standing changes in BP. © 1995 Wiley‐Liss, Inc.
Mulibrey nanism: Three additional patients and a review of 39 patients
Authors: Lapunzina Pablo , Rodríguez José Ignacio , de Matteo Elena , Gracia Ricardo , Moreno Felipe 
Published: June 2005

AbstractWe report on 3 patients with Mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J‐shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and lifethreatening abnormality in this syndrome.MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment. © 1995 Wiley‐Liss, Inc.
Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome
Authors: Inbal Aida , Avissar Nelly , Shaklai Mati , Kuritzky Arieh , Schejter Abel , Ben‐David Eitan , Shanske Sara , Garty Ben‐Zion 
Published: June 2005

AbstractWe describe 2 sibs (brother and sister) with myopathy, sideroblastic anemia, lactic acidosis, mental retardation, microcephaly, high palate, high philtrum, distichiasis, and micrognathia. Very low levels of cytochromes a, b, and c were detected in the patients' muscle mitochondria. Deposition of iron within the mitochondria of bone marrow erythroblasts was observed on electron microscopy. Irregular and enlarged mitochondria with paracrystalline inclusions were also seen on electron microscopy of the patients' muscle specimen. Examination of DNA from the affected sibs showed no deletions in the mitochondrial DNA nor the mutations identified in the syndromes of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) or myoclonus, and epilepsy associated with rugged‐red fibers (MERRF).Since the parents were first cousins and 2 of 6 sibs (male and female) were affected, we suggest that the syndrome expressed by our patients represents a previously unknown autosomal recessive disorder that includes mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. © 1995 Wiley‐Liss, Inc.
Girl with signs of Pelizaeus‐Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene
Authors: Hodes M. E. , Demyer William E. , Pratt Victoria M. , Edwards Mary K. , Dlouhy Stephen R. 
Published: June 2005

AbstractWe studied a female infant with clinical signs of Pelizaeus‐Merzbacher disease (PMD), who has a familial mutation (C41 →T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditory evoked response (BAER) consistent with that diagnosis. The data here presented show that PMD can occur in females carrying a mutation in the PLP gene. Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et al.: Am J Med Genet 38:136–139, 1991] show that molecular genetic analysis and not MRI is the appropriate means for carrier detection. © 1995 Wiley‐Liss, Inc.
Dominant distal arthrogryposis in a Maori family with marked variability of expression
Authors: Klemp Patrick , Hall Judith G. 
Published: June 2005

AbstractThe index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman‐Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann‐de Lange syndrome. This is the first report of arthrogryposis in a Maori family. © 1995 Wiley‐Liss, Inc.
Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review
Authors: Farrell S. A. , Fan Yao‐Shan 
Published: June 2005

AbstractWe report a new de novo case of a balanced whole‐arm reciprocal translocation, detected at prenatal diagnosis for late maternal age. A review of previous cases indicates there is a risk of chromosomally abnormal liveborn offspring when a parent is a carrier of this type of translocation, particularly when the translocated region is a small chromosomal segment. Due to the limited number of cases, exact reproductive risks are not available. This is the second example of such a translocation of chromosomes 1 and 5, raising the possibility of nonrandom involvement of certain chromosomes in balanced nonacrocentric whole‐arm reciprocal translocations. © 1995 Wiley‐Liss, Inc.
Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): A model of a developmental field defect
Authors: Sorge Giovanni , Ardito Salvatore , Genuardi Maurizio , Pavone Vito , Rizzo Renata , Conti Giovanni , Neri Giovanni , Katz Ben E. , Opitz John M. 
Published: June 2005

AbstractProximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalities can be found in the presence of a typical FAH picture. We report on 5 patients with a variable combination of femoral and fibular defects. In one of them unilateral PFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face syndrome (FH/UFS). Another patient had isolated PFFD on one side, with controlateral absence of femur, fibula, and tibia. Another patient had a PFFD, fibular hypoplasia, and abnormalities of fibular foot rays, and the last 2 patients, a father and son, had, respectively, bilateral foot malformations plus fibular and tibial hypoplasia in the father and a PFFD in the son. These observations represent a further demonstration of the existence of a fibular developmental field, and contribute to the definition of its spatial boundaries. The variable involvement of elements comprised in the developmental field can be explained by multifactorial etiology. © 1995 Wiley‐Liss, Inc.
Detection of Y chromosome sequences in a 45,X/46,XXq– patient by Southern blot analysis of PCR‐amplified DNA and fluorescent in situ hybridization (FISH)
Authors: Kocova Mirjana , Siegel Selma Feldman , Wenger Sharon L. , Lee Peter A. , Nalesnik Michael , Trucco Massimo 
Published: June 2005

AbstractIn some cases of gonadal dysgenesis, cytogenetic analysis seems to be discordant with the phenotype of the patients. We have applied techniques such as Southern blot analysis and fluorescent in situ hybridization (FISH) to resolve the phenotype/genotype discrepancy in a patient with ambiguous genitalia in whom the peripheral blood karyotype was 45,X. Gonadectomy at age 7 months showed the gonadal tissue to be prepubertal testis on the left side and a streak gonad on the right. The karyotype obtained from the left gonad was 45,X/46,XXq‐ and that from the right gonad was 45,X. Three different techniques, PCR amplification, FISH, and chromosome painting for X and Y chromosomes, confirmed the presence of Y chromosome sequences. Five different tissues were evaluated. The highest percentage of Y chromosome positive cells were detected in the left gonad, followed by the peripheral blood lymphocytes, skin fibroblasts, and buccal mucosa. No Y chromosomal material could be identified in the right gonad. Since the Xq‐ chromosome is present in the left gonad (testis), it is likely that the Xq‐ contains Y chromosomal material. Sophisticated analysis in this patient showed that she has at least 2 cell lines, one of which contains Y chromosomal material. © 1995 Wiley‐Liss, Inc.
Genetic study of nonsyndromic coronal craniosynostosis
Authors: Lajeunie Elizabeth , Merrer Martine Le , Bonaïti‐Pellie Catherine , Marchac Daniel , Renier Dominique 
Published: June 2005

AbstractFrom a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 ± 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases. © 1995 Wiley‐Liss, Inc.
Asplenia in two father‐son Pairs
Authors: Lindor Noralane M. , Smithson William A. , Ahumada Carlos A. , Michels Virginia V. , Opitz John M. 
Published: June 2005

AbstractWe report on two father‐son pairs with isolated nonsyndromal asplenia. This may represent autosomal dominant inheritance of a mutation in a gene involved with spleen development and determination of laterality. The incidence of hereditary isolated asplenia is unknown; therefore, screening for asplenia in first degree relatives of individuals with (poly)asplenia should be considered. © 1995 Wiley‐Liss, Inc.
Kabuki make‐up (Niikawa‐Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations
Authors: Ilyina Helena , Lurie Iosif , Naumtchik Irena , Amoashy Dmitry , Stephanenko Galina , Fedotov Valery , Kostjuk Albina 
Published: June 2005

AbstractWe describe clinical manifestations and historical data on ten patients with Kabuki make‐up syndrome. All patients are of European ancestry and all have the characteristics of the syndrome, including typical face, retarded physical development, and mild to moderate mental retardation. Two of the probands have low‐normal intelligence. Prominent and broad philtrum was described as an important component manifestation of the syndrome. In three families some clinical manifestations of Kabuki make‐up syndrome were observed in parents and some other relatives of the probands in three generations. Some phenotypic differences between Asian and non‐Asian patients were noted. The possible cause of the syndrome is discussed. The present observations and a literature review suggest autosomal dominant inheritance with different expressivity of the Kabuki make‐up syndrome. © 1995 Wiley‐Liss, Inc.
Family with partial monosomy 10p and trisomy 10p
Authors: Hon Ellis , Chapman Cyril , Gunn Tania R. 
Published: June 2005

AbstractWe report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflux, and neurosensory hearing loss. The mother and the elder brother of the propositus carry a balanced reciprocal translocation (5q;10p)(q35.3;p12.3). A retarded and epileptic maternal aunt was found to have dup(10p).Study of the family history led to the successful obstetric management of a subsequent twin pregnancy in which an affected fetus with dup(10p) was identified and selectively terminated, while the other normal twin was delivered at term without problems. © 1995 Wiley‐Liss, Inc.
Marker chromosome 21 identified by microdissection and FISH
Authors: Sun Yongming , Rubinstein Jack , Soukup Shirley , Palmer Catherine G. 
Published: June 2005

AbstractA child without Down syndrome but with developmental delay, short stature, and autistic behavior was found to be mosaic 46,XX/47,XX,+mar(21) de novo. The marker was a small ring or dot‐like chromosome. Microdissection of the marker was performed. The dissected fragments were biotinylated with sequence‐independent PCR as a probe pool for fluorescence in situ hybridization (FISH). FISH results suggested an acrocentric origin of the marker. Subsequent FISH with α‐satellite DNA probes for acrocentric chromosomes, and chromosome‐specific 21 and 22 painting probes confirmed its origin from chromosome 21. © 1995 Wiley‐Liss, Inc.
Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses
Authors: Preis Sabine , Raymaekers‐Buntinx Inge , Majewski Frank 
Published: June 2005

AbstractWe describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée‐Wiedemann syndrome (=Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification. © 1995 Wiley‐Liss, Inc.
Severe Smith‐Lemli‐Opitz syndrome with prolonged survival and lipid abnormalities
Authors: Pierquin G. , Peeters P. , Roels F. , Vamos E. , Brucher J. M. , Tint G. S. , Honda A. , Van Regemorter N. 
Published: June 2005

AbstractWe have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco‐Sjögren syndrome, it is concluded that this girl had severe Smith‐Lemli‐Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7‐dehydrocholesterol in cultured fibroblasts. © Wiley‐Liss, Inc.
Inconsistencies in pedigree symbols in human genetics publications: A need for standardization
Authors: Steinhaus Kathryn A. , Bennett Robin L. , Resta Robert G. , Uhrich Stefanie B. , Doyle Debra L. , Markel Dorene S. , Vincent Victoria A. 
Published: June 2005

AbstractTo determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree's basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations. © Wiley‐Liss, Inc.
Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature
Authors: Bacino Carlos A. , Schreck Rhona , Fischel‐Ghodsian Nathan , Pepkowitz Samuel , Prezant Toni R. , Graham John M. 
Published: June 2005

AbstractTrisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality. We present two strikingly similar cases of non‐mosaic trisomy 22 surviving to late gestation. In this paper we emphasize the unique phenotype of this trisomy which included intrauterine growth retardation, microcephaly, broad flat nasal bridge with epicanthal folds and ocular hypertelorism, microtia, variable cleft palate, webbed neck, congenital heart defects involving anomalous great vessels, anorectal and renal anomalies, and hypoplastic distal digits with thumb anomalies. We also explore why some cases survive to late gestation. Confined placental mosaicism, a frequent finding in other lethal trisomies, has been ruled out in one of the cases. Molecular studies done to assess the parental origin of the extra chromosome in the other case showed that the non‐disjunction originated during maternal meiosis II. Parental origin of the extra chromosome does not seem to play a role in late survival for trisomy 22. © 1995 Wiley‐Liss, Inc.
Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25)
Authors: Makita Yoshio , Masuno Mitsuo , Imaizumi Kiyoshi , Yamashita Sumimasa , Ohba Shizuko , Ito Daizou , Kuroki Yoshikazu 
Published: June 2005

AbstractWe report on a boy with Rieger syndrome, who had an apparently balanced reciprocal translocation between chromosomes 1 and 4. The clinical manifestations of this patient were characterized by irregular shaped pupils with a prominent Schwalbe line and an umbilical hernia. On cytogenetic studies, he was found to have a de novo reciprocal translocation 46,XY,t(1;4) (q23.1;q25), without visible deletion. His parents had normal chromosomes. A review of both cytogenetic and genetic linkage analyses with Rieger syndrome showed that chromosome 4q was involved. This and other previous reports suggested that the gene for Rieger syndrome is mapped to the 4q25→4q26 segment adjoining the breakpoint. © 1995 Wiley‐Liss, Inc.
Absent pituitary gland in two brothers with an oral‐facial‐digital syndrome resembling OFDS II and VI: A new type of OFDS?
Authors: Shashi Vandana , Clark Pamela , Rogol Alan D. , Wilson William G. 
Published: June 2005

AbstractThe oral‐facial‐digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95‐105, 1993], and with other entities such as Pallister‐Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and Pallister‐Hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects. © 1995 Wiley‐Liss, Inc.
Exploration of the effects of predictive testing for Huntington disease on intimate relationships
Authors: Quaid Kimberly A. , Wesson Melissa K. 
Published: June 2005

AbstractThe focus in predictive testing for Hunting‐ton disease is beginning to shift from individuals at risk to an examination of the effects on other relatives, particularly on spouses and partners. We examine the effects of participating in a predictive testing program for 25 couples. When assessed prior to testing, spouses were significantly more depressed than their at‐risk partners. After pretest counseling, 6 (24%) of the couples chose not to pursue testing. At baseline, these 6 couples had significantly higher levels of psychological distress and marital dysfunction than couples who did choose to complete testing.Of the 19 couples completing testing, 5 received an increased risk result and 14 received a decreased risk result. Prior to testing, the partners of individuals who later received an increased risk result exhibited higher levels of marital distress. At 3‐ and 6‐month follow‐ups, high‐risk couples were significantly more distressed than low‐risk couples. These levels of distress improved somewhat at 9 months after testing, but began to climb again at 12 months.Individuals at increased risk were significantly more distressed at all points during follow‐up as compared to individuals at low risk. No significant differences were found between the partners of high‐ and low‐risk individuals at 3, 6, 9, and 12 months after disclosure. The significance of these findings and the need to include partners in pretest counseling prior to genetic testing are discussed. © 1995 Wiley‐Liss, Inc.