bluuebunny/crossref_metadata_2025_split huggingface dataset:
X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression
Authors: McPherson Elizabeth W. , Clemens Michele M. , Gibbons Richard J. , Higgs Douglas R. 
Published: June 2005

AbstractWe report a new kindred containing 4 patients with X‐linked α‐thalassemia/mental retardation syndrome ((ATR‐X). Like previously reported ATR‐X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies including hemoglobin electrophoresis, but the three living patients all had hemoglobin H inclusions on brilliant cresyl blue stained peripheral smears. The combination of skewed X‐inactivation and haplotype analysis at Xq12‐q21.3 confirmed carrier status in the 3 obligate carriers in the kindred and led to identification of an additional carrier. Two other women in the kindred appear to be noncarriers on the basis of normal X‐inactivation and/or inheritance of a different Xq12‐21.3 haplotype. More widespread use of brilliant cresyl blue staining for HbH inclusions in individuals with the facial phenotype of ATR‐X and/or ambiguous genitalia may lead to the identification of more affected patients and improved understanding of the clinical spectrum of ATR‐X. © 1995 Wiley‐Liss, Inc.
Duchenne muscular dystrophy and myotonic dystrophy in the same patient
Authors: Dubrovsky Alberto L. , Taratuto A. L. , Sevlever G. , Schultz M. , Pegoraro E. , Hoop R. C. , Hoffman E. P. 
Published: June 2005

AbstractWe report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy (DMD). The family of the propositus had a strong history of myotonic dystrophy, and there was an intrafamilial pathological expansion of the responsible CTG repeat between the mildly affected mother (160 repeats; normal 27 repeats) and her more severely affected son (650 repeats), and his sister (650 repeats). The propositus was an isolated case of Duchenne muscular dystrophy with marked dystrophin deficiency in muscle biopsy. The patient was still ambulatory post age 16. Myotonic dystrophy could interfere to some extent with the progression of Duchenne dystrophy. However, other interpretations are possible. Twelve percent of dystrophin revertant fibers as observed by immunohistochemistry could be sufficient to ameliorate typical DMD clinical severity, or the patient may present a somatic mosaic. The pathophysiological interactions of these two unlinked disorders are discussed at the clinical and histopathological levels. © 1995 Wiley‐Liss, Inc.
Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females
Authors: Abeliovich Dvorah , Dagan Judith , Kimchi‐Sarfaty Chava , Zlotogora Joel 
Published: June 2005

AbstractWe describe a familial paracentric inversion (X)(q21.2 q24) in a family with 2 male and 2 female carriers. The males were mentally retarded and the females were normal with normal ovarian function. It is suggested that a recessive mental retardation (MR) gene was disrupted by one of the inversion breakpoints, although an X‐linked MR gene which by chance is linked to the inv(X) could not be ruled out. In the female carriers of the paracentric inversion a random X‐inactivation was demonstrated. The normal ovarian function is an exception to the concept of “critical region” at Xq13‐q26. © 1995 Wiley‐Liss, Inc.
Diabetic embryopathy: Possible pathogenesis
Authors: Sadler Laurie S. , Robinson Luther K. , Msall Michael E. 
Published: June 2005

AbstractDespite recent emphasis upon improved metabolic control during early diabetic pregnancy, the offspring of insulin‐dependent diabetic women continue to have a 2‐ to 4‐fold increased risk of congenital malformations. We recently evaluated the affected offspring of 4 insulin‐dependent diabetic women. All had abnormal ears in association with vertebral defects. Our analysis of the structural defects of these infants and a review of the literature suggest that the pathogenesis of some cases of the diabetic embryopathy may involve a primary insult to developing somite mesoderm and associated cephalic neural crest cells. © 1995 Wiley‐Liss, Inc.
New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay
Authors: Bagatelle Rochelle , Cassidy Suzanne B. 
Published: June 2005

AbstractWe describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome. © 1995 Wiley‐Liss, Inc.
Pitt–Rogers–Danks syndrome: Further delineation
Authors: Lizcano‐Gil Luis A. , García‐Cruz Diana , García‐Cruz Olga , Sánchez‐Corona José 
Published: June 2005

AbstractThe Pitt–Rogers–Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and the first one in which the patient also presents with optic atrophy. Autosomal recessive inheritance has been proposed until now, however, the increased paternal age seen in this case is suggestive of a possible autosomal dominant de novo mutation. © 1995 Wiley‐Liss, Inc.
De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland
Authors: Chen Harold , Hoffman William H. , Kusyk Christine J. , Tuck‐Muller Cathy M. , Hoffman Martin G. , Davis Loretta S. 
Published: June 2005

AbstractWe report on a black male child with congenital hypoplasia of the adrenal gland (CHA) with a de novo duplication of 5p [dir dup(5) (p13.3→p15.1)], confirmed by fluorescence in situ hybridization (FISH). In addition to a characteristic clinical course, the patient has hyperpigmentation (melanoderma) since birth, normal external genitalia, marked elevation of ACTH, and absent response to an IV ACTH challenge. To the best of our knowledge, this is the first case of congenital hypoplasia of the adrenal gland associated with a chromosome abnormality. Reviews of dup (5p) and of our patient suggest that duplication of 5p13.3‐pter has only minor phenotypic effect, while duplication of the relatively small critical segment p11‐p13.2 apparently causes far more deleterious changes. The concurrence of CHA and dup(5p) in our patient may indicate the possible gene localization of an autosomal form of CHA to either at or near 5p13.3 or 5p15.1. © 1995 Wiley‐Liss, Inc.
Mosaicism for a chromosome 8‐derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism
Authors: Spinner Nancy B. , Grace Kim Rehberg , Owens Nancy L. , Sovinsky Lorraine , Pellegrino Joan E. , McDonald‐McGinn Donna , Zackai Elaine 
Published: June 2005

AbstractWe describe a patient with manifestations of the mosaic trisomy 8 syndrome and mo‐saicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This is the smallest piece of chromosome 8 to be reported in a patient with mosaic trisomy 8 syndrome. When the clinical picture is strongly suggestive of trisomy for a specific chromosome region, we believe that FISH can be used to test markers in a guided, rather than random, fashion. © 1995 Wiley‐Liss, Inc.
Further delineation of the branchio‐oculo‐facial syndrome
Authors: Lin Angela E. , Gorlin Robert J. , Lurie Iosif W. , Brunner Han G. , van der Burgt Ineke , Naumchik Irena V. , Rumyantseva Natalja V. , Stengel‐Rutkowski Sabine , Rosenbaum Kenneth , Meinecke Peter , Muller Dietmar 
Published: June 2005

AbstractWe review 43 patients (15 new, 28 literature) with the branchio‐oculo‐facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly pathognomonic are the cervical/infra‐auricular skin defects. Much less common are supra‐auricular defects occurring as isolated anomalies or with cervical defects. Regardless of location, these lesions may have aplastic, “hemangiomatous,” or otherwise abnormal overlying skin, and draining sinus fistulae. Renal malformations are frequent, but congenital heart and central nervous system defects are rare. Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common. Autoso‐mal dominant inheritance seems likely. Overlap between the BOF and branchio‐oto‐renal syndromes has been observed, but elucidation of its molecular basis is not yet available. This article also discusses 5 patients with atypical manifestations considered to be possibly affected or probably unaffected, who are sufficiently unusual to be excluded from the final data analysis. © 1995 Wiley‐Liss, Inc.
Interstitial deletion of 8q21→22 associated with minor anomalies, congenital heart defect, and Dandy‐Walker variant
Authors: Donahue Margaret L. , Ryan Rita M. 
Published: June 2005

AbstractWe describe an infant with a deletion of 8q21→22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy‐Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide‐spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a “carp‐shaped” mouth, micrognathia, and prominent, apparently low‐set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome. © 1995 Wiley‐Liss, Inc.
Angelman syndrome: Validation of molecular cytogenetic analysis of chromosome 15q11‐q13 for deletion detection
Authors: White L. , Knoll J. H. M. 
Published: June 2005

AbstractIn a series of 18 individuals comprising parents of Angelman syndrome (AS) patients and AS patients with large deletions, mi‐crodeletions, and no deletions, we utilized fluorescence in situ hybridization (FISH) with genomic phage clones for loci D15S63 and GABRB3 for deletion detection of chromosome 15qll‐ql3. Utilization of probes at these loci allows detection of common large deletions and permits discrimination of less common small deletions. In all individuals the molecular cytogenetic data were concordant with the DNA deletion analyses. FISH provides an accurate method of deletion detection for chromosome 15qll‐ql3. © 1995 Wiley‐Liss, Inc.
Clinical profile of Angelman syndrome at different ages
Authors: Buntinx Inge M. , Hennekam Raoul C. M. , Brouwer Oebele F. , Stroink Hans , Beuten Joke , Mangelschots Kathelijne , Fryns J. P. 
Published: June 2005

AbstractWe describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including the anamnestic data, the clinical and the behavioral attributes at different ages. The clinical picture of AS is most distinct between the ages of 2–16 years. Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike movements, typical stature, wide based gait) beside the mental retardation and (almost) absence of speech, which is a universal trait. The diagnosis in infants is based on only a limited number of clinical characteristics or on anamnestic data. However, if these occur in combination, they are indicative of AS. In older patients, the diagnosis may be hampered in part because of the changing behavioral characteristics and the decreasing frequency of fits. Other manifestations, such as scoliosis, may become more pronounced with age. © 1995 Wiley‐Liss, Inc.
Developmental trends of sleep‐disordered breathing in Prader‐Willi syndrome: The role of obesity
Authors: Hertz Gila , Cataletto Mary , Feinsilver Steven H. , Angulo Moris 
Published: June 2005

AbstractPolysomnographic recordings of 43 children and adults with Prader‐Willi syndrome (PWS) were inspected and classified into 5 age groups. The effect of age and body mass index (BMI) on measures of breathing, oxygen saturation, and sleep efficiency were analyzed. Body mass index (BMI) increased significantly between early childhood and preadolescent groups. Subjecting the data to analysis of variance showed an overall significant effect of BMI but no age effect on breathing parameters and oxygen saturation. Increased BMI was associated with decreased oxygen saturation and with higher apnea/hypopnea index. Sleep efficiency index was significantly lower in adults than in young children, preadolescent, and adolescent groups. These findings emphasize the role of obesity in the development of sleep‐related breathing abnormalities and nocturnal oxygen desaturation in patients with PWS. © 1995 Wiley‐Liss, Inc.
“C” Trigonocephaly syndrome: Report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review
Authors: Glickstein Julie , Karasik Jeffrey , Caride Diana Garcia , Marion Robert W. 
Published: June 2005

AbstractWe report on a new case of the Opitz “C” trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review shows that a combination of conotruncal heart defects and midline brain anomalies characterizes patients with this entity. © 1995 Wiley‐Liss, Inc.
Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature
Authors: Wooldridge Jamie , Zunich Janice 
Published: June 2005

AbstractWe report on a 6‐year‐old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27‐year‐old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low‐set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high‐arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv(9qh+) chromosome. The mother's karyotype was 46,XX,inv(9qh+), while the father's was 46,XY.At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient's birth. Severe psychomotor retardation was also noted.Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reproted since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. © Wiley‐Liss, Inc.
Prenatal detection of the cholesterol biosynthetic defect in the Smith‐Lemli‐Opitz syndrome by the analysis of amniotic fluid sterols
Authors: Abuelo Dianne N. , Tint G. S. , Kelley Richard , Batta Ashok K. , Shefer Sarah , Salen Gerald 
Published: June 2005

AbstractThe Smith‐Lemli‐Opitz (SLO or RSH) syndrome is an autosomal recessive disorder characterized by a recognizable pattern of minor facial anomalies, congenital anomalies of many organs, failure to thrive, and mental retardation. Its cause is a defect in cholesterol biosynthesis characterized by abnormally low plasma cholestrol levels and concentrations of the cholestrol precursor 7‐dehydrocholesterol (7DHC) elevated up to several thousand‐fold above normal. We used capillary column gas‐chromatography to quantify sterols in amniotic fluid, amniotic cells, plasma, placenta, and breast milk from a heterozygous mother who had previously given birth to an affected son and in cord blood and plasma from her affected newborn daughter. The cholesterol concentration in amniotic fluid at 16 weeks gestation was normal, but 7DHC was 11% of total cholesterol, similar to cultured fibroblasts from patients with SLO syndrome. At 38 weeks, a girl with phenotype consistent with the syndrome was born. Cholesterol concentrations were abnormally low in cord blood and in the baby's plasma at 12 weeks, while levels of 7DHC were grossly elevated, confirming the prenatal diagnosis. The mother's plasma cholesterol increased steadily during gestation but remained below the lower 95% limit reported for normal control women. We conclude that it is now possible to detect the SLO syndrome at 16 weeks gestation by analyzing amniotic fluid sterols. © Wiley‐Liss, Inc.
Web neck anomaly and its association with congenital heart disease
Authors: Berdahl Laurie D. , Wenstrom Katharine D. , Hanson James W. 
Published: June 2005

AbstractTo investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck.Sixty percent of infants with web neck had CHD, with a high incidence of flowrelated defects such as hypoplastic left heart, coarctation, and secundum atrial septal defect. Sixty‐eight percent of infants with web neck had a genetic syndrome (37% Down syndrome, 13% Ullrich‐Turner syndrome, and 5% Noonan syndrome), and 24% had dysmorphic features consistent with lymphatic obstruction sequence. When infants with Down, Ullrich‐Turner, and Noonan syndrome and web neck were compared to infants with the same syndrome but without web neck, those with web neck were significantly more likely to have flow‐related heart defects. Infants with Ullrich‐Turner syndrome and web neck had an 11‐fold higher incidence of coarctation, compared to those with a normal neck.Our data suggests web neck is associated with both flow and nonflow‐related heart defects. This association implies a pathogenetic relationship and appears to be independent of causal factors. The finding of web neck or nuchal cystic hygroma on a prenatal ultrasound or newborn examination should prompt a search for CHD. © Wiley‐Liss, Inc.
Autosomal‐recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome
Authors: Gross Anja , Kunze Jürgen , Maier Rolf F. , Stoltenburg‐Didinger Gisela , Grimmer Ingrid , Obladen Michael 
Published: June 2005

AbstractWe report on a macrosomic newborn girl with albinism, a black lock at the right temporo‐occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory‐evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal‐recessive inheritance. © Wiley‐Liss, Inc.
Rapid in situ detection of chromosome 21 by PRINS technique
Authors: Pellestor Franck , Girardet Anne , Lefort Geneviève , Andréo Brigitte , Charlieu Jean P. 
Published: June 2005

AbstractThe “PRimed IN Situ labeling” (PRINS) method is an interesting alternative to in situ hybridization for chromosomal detection. In this procedure, chromosome labeling is performed by in situ annealing of specific oligonucleotide primers, followed by primer elongation by a Taq polymerase in the presence of labeled nucleotides. Using this process, we have developed a simple and semi‐automatic method for rapid in situ detection of human chromosome 21. The reaction was performed on a programmable temperature cycler, with a chromosome 21 specific oligonucleotide primer. Different samples of normal and trisomic lymphocytes and amniotic fluid cells were used for testing the method.Specific labeling of chromosome 21 was obtained in both metaphases and inter‐phase nuclei in a 1 hour reaction. The use of oligonucleotide primer for in situ labeling overcomes the need for complex preparations of specific DNA probes. The present results demonstrate that PRINS may be a simple and reliable technique for rapidly detecting aneuploidies. © 1995 Wiley‐Liss, Inc.
Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization
Authors: Zhao Jian , Gordon Patricia L. , Wilroy R. Sid , Martens Paula R. , Tarleton Jack , Shulman Lee P. , Simpson Joe Leigh , Elias Sherman , Tharapel Avirachan T. 
Published: June 2005

AbstractUnbalanced de novo rearrangements, difficult to characterize by conventional cytogenetic techniques, may be elucidated by molecular approaches. By dinucleotide repeat polymorphism typing and fluorescence in situ hybridization (FISH), we have denned the composition of an unbalanced de novo translocation (46,XX,15p+) in a child with multiple congenital anomalies. Use of a microsatellite repeat D5S208 (localized to 5pl5) and polymerase chain reaction (PCR) analysis confirmed that the extra segment originated from the short arm of chromosome 5. Amplification of the patient's DNA with primers for dinucleotide repeats D5S350 and D5S118 showed that the entire 5p (from Spter to 5q11) was present in 3 copies. FISH confirmed the trisomic status of 5p, and further revealed the presence of centromeres of both chromosomes 5 and 15 on the rearranged chromosome thus delineating its dicentric nature. This information allowed us to redefine the de novo rearrangement in this patient as 46,XX,dic der(15)t(5;15)(q11;p11). © 1995 Wiley‐Liss, Inc.
Frontometaphyseal dysplasia: Neonatal radiographic diagnosis
Authors: Glass Ronald B. J. , Rosenbaum Kenneth N. 
Published: June 2005

AbstractFrontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue. This condition is characterized by hyperostosis of the skull and prominence of the supraorbital ridges; long bones have flared metaphyses. Frontometaphyseal dysplasia is an X‐linked dominant trait with more severe manifestations in males and with extreme variability in females. Diagnosis in the neonatal period is difficult. We present 2 newborn boys with the radiographic findings of FMD. © 1995 Wiley‐Liss, Inc.
Craniosynostosis and kidney malformation in a case of Hennekam syndrome
Authors: Cormier‐Daire V. , Lyonnet S. , Lehnert A. , Martin D. , Salomon R. , Patey N. , Broyer M. , Ricour C. , Munnich A. 
Published: June 2005

AbstractHennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome. While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression. © 1995 Wiley‐Liss, Inc.