bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature
Authors: Arn Pamela Hawks , Younie Linda , Russo Suzanne , Zackowski Joleen L. , Mankinen Carl , Estabrooks Laurel 
Published: June 2005

AbstractWe describe 3 families segregating for a translocation of the nucleolus organizer region (NOR) onto chromosome 4. Review of previously reported cases of translocations involving NOR and chromosome 4 shows that these translocations may be associated with variable reproductive outcomes. We provide evidence that imprinting is not the mechanism responsible for the variable reproductive outcomes in the case of satellited 4p chromosomes; this may offer indirect support for a ribosomal gene position effect. Translocated ribosomal genes may influence the expression of neighboring genes and could explain the variable phenotypes in individuals with satellited nonacrocen‐tric chromosomes. We recommend that prenatal counseling of individuals with satellited nonacrocentric chromosomes should be cautious. © 1995 Wiley‐Liss, Inc.
De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel‐Feil anomaly and type A1 brachydactyly
Authors: Fukushima Yoshimitsu , Ohashi Hirofumi , Wakui Keiko , Nishimoto Hiroshi , Sato Masato , Aihara Toshinori 
Published: June 2005

AbstractWe report on a girl with Klippel‐Feil anomaly, type Al brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q1l.2 and 17q23. The possible significance of this chromosomal abnormality is discussed. © 1995 Wiley‐Liss, Inc.
Dominant inheritance in two families with familial Mediterranean fever (FMF)
Authors: Yuval Y. , Hemo‐Zisser M. , Zemer D. , Sohar E. , Pras M. 
Published: June 2005

AbstractFamilial Mediterranean fever (FMF) is an autosomal‐recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel.Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation. In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients.In 2 families, one of Ashkenazi and the other of Georgian Iraqi origin, in which FMF occurred in 4 consecutive generations, the mode of inheritance could be explained only by autosomal‐dominant inheritance. © 1995 Wiley‐Liss, Inc.
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
Authors: Parenti Giancarlo , Rizzolo Maria Grazia , Ghezzi Monica , Maio Salvatore Di , Sperandeo Maria Pia , Incerti Barbara , Franco Brunella , Ballabio Andrea , Andria Generoso 
Published: June 2005

AbstractWe report on the clinical and molecular characterization of 3 sibs with X‐linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X‐linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers. © 1995 Wiley‐Liss, Inc.
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p
Authors: Amati Francesca , Mari Aldo , Mingarelli Rita , Gennarelli Massimo , Digilio Maria Cristina , Giannotti Aldo , Marino Bruno , Novelli Giuseppe , Dallapiccola Bruno 
Published: June 2005

AbstractAtrioventricular canal defects (AVCD) constitute the predominant congenital heart defect in Down syndrome. For this reason, a candidate gene involved in atrioventricular canal development was previously searched and excluded in dominant pedigrees of AVCD, using linkage analysis of polymorphisms from chromosome 21. Because of the striking association between 8p deletion and AVCD, a search for an AVCD gene was carried out in two pedigrees of individuals with autosomal dominant AVCD using a set of DNA markers of the 8pter→ql2 region. These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two‐point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. Multipoint analysis excluded the region covered by the markers LPL‐D8S262 and 30 cM to either side of this area. This result corroborates heterogeneity of this heart defect and indicates that the genetic basis of familial AVCD is different from AVCD associated to either trisomy 21 or 8p deletion. © 1995 Wiley‐Liss, Inc.
XXY male with X‐linked dominant chondrodysplasia punctata (Happle syndrome)
Authors: Sutphen Rebecca , Amar Marcelo J. , Kousseff Boris G. , Toomey Kathleen E. 
Published: June 2005

AbstractHapple syndrome is an X‐linked dominant disorder with presumed lethality in hemizy‐gous males; familial occurrence is rare. We describe a family with Happle syndrome affecting individuals in 3 generations. A man in this family is the first known male patient with Happle syndrome. He is severely affected; this may be due to his 47, XXY kary‐Otype. © 1995 Wiley‐Liss, Inc.
Short tandem repeat polymorphism linkage studies in a new family with X‐linked mental retardation (MRX20)
Authors: Lazzarini Alice , Stenroos Edward S. , Lehner Thomas , McKoy Vershon , Gold Bert , McCormack Michael K. , Reid Cheryl S. , Ott Jurg , Johnson William G. 
Published: June 2005

AbstractA family with X‐linked recessive mental retardation (XLMR) without other obvious manifestations (MRX20) was studied with 14 short tandem repeat polymorphism (STRP) markers. Two‐point lod scores above 3 were obtained with DXS1003, DXYS1, DXS3, and DXS458. A multipoint lod score of 4.25 was obtained with peak at DXS1003. Recombination events identify a 55.6 cM interval between DXS1068 and DXS454, while a one unit support interval identifies 40 cM between MAOA and DXS458. © 1995 Wiley‐Liss, Inc.
Small patella syndrome
Authors: Kozlowski Kazimierz , Nelson John 
Published: June 2005

AbstractWe report on 2 sporadic cases of small patella syndrome (coxo‐podo‐patellaire syndrome) most probably representing new mutations. Both children showed retarded patellar bone age (small patellae in Patient 1 and absent patellae in Patient 2) and pelvic abnormalities. Patient 1 who was fully investigated had an unusual facies with characteristic morphological abnormalities of the forefoot and generalized bone changes. Patient 2 was not available for examination and only X‐ray films of his knees, pelvis, and chest were available. These were all abnormal. He was said to have an “unusual facies” with flattened nose and prominent forehead but no further information was available.We think that small patella syndrome (coxo‐podo‐patellaire syndrome) is a generalized bone dysplasia with morphological and diagnostic radiographic appearances. © 1995 Wiley‐Liss, Inc.
De novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization
Authors: Wiley John E. , Stout Janice C. , Palmer Shane M. , Kushnick Theodore 
Published: June 2005

AbstractConstitutional nonreciprocal translocations are extremely rare, and even their existence is controversial. We report on a newborn infant with a de novo nonreciprocal translocation between chromosomes 1 and 8 resulting in 1q42.3 deletion syndrome. Fluorescent in situ hybridization with whole chromosome paints confirmed the conventional cytogenetic diagnosis. © 1995 Wiley‐Liss, Inc.
Association of kyphomelic dysplasia with severe combined immunodeficiency
Authors: Corder W. Thomas , Hummel Marybeth , Miller Christopher , Wilson Nevin W. 
Published: June 2005

AbstractKyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities. While immune deficiency occurs in other short stature/short‐limb skeletal dysplasias and cartilage‐hair hypoplasia, it has not been described with kyphomelic dysplasia. We report on an infant with this disorder who had profound humoral and cellular immunologic abnormalities consistent with severe combined immune deficiency (SCID). The infant died at age 2 months of overwhelming cytomegalovirus pneumonia. Kyphomelic dysplasia, as with other short stature/short‐limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified. © 1995 Wiley‐Liss, Inc.
Apparent Malpuech syndrome: Report on three Brazilian patients with additional signs
Authors: Guion‐Almeida M. L. 
Published: June 2005

AbstractWe report on 3 unrelated Brazilian patients with shortness of stature, hypertelorism, eye anomalies, facial clefting, hearing loss, urogenital abnormalities, omphalocele, “caudal appendage,” and mental retardation. Two patients were born to normal and nonconsanguineous parents and one was born to consanguineous (first cousin) parents (F=1/16). The similarity of our patients with those previously reported by Malpuech et al. [Am J Med Genet 16:475–480, 1983] led us to suggest that they have the same condition. © 1995 Wiley‐Liss, Inc.
Congenital healed cleft lip
Authors: Castilla Eduardo E. , Martínez‐Frías María Luísa 
Published: June 2005

AbstractCongenital “healed” cleft lip (CHCL) is an unusual anomaly including a paramedian “scar” of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and “collapsed” nostril.Twenty‐five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America.Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family.The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery.CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre‐occurrence of CHCL in two families suggests a familial predisposition to this phenomenon. © 1995 Wiley‐Liss, Inc.
Uniparental disomy in congenital disorders: A prospective study
Authors: Lindor Noralane M. , Karnes Pamela S. , Michels Virginia V. , Dewald Gordon W. , Goerss Jean , Jalal Syed , Jenkins Robert B. , Vockley Gerard , Thibodeau Stephen N. 
Published: June 2005

AbstractWhole chromosome uniparental disomy (UPD) for several different chromosomes has been described in individuals with phenotypes that encompass a broad range of abnormalities. We prospectively searched for UPD in 25 cytogenetically normal individuals who had one or more of the following features: nonsyndromic multiple congenital anomalies, short stature, mental retardation, or dysmorphic findings. Using highly polymorphic microsatellite repeats, biparental inheritance of at least one locus on every chromosome was found in every individual and uniparental inheritance was not detected at any locus. If UPD does exist in this clinical setting, its frequency is less than 13.7% (95% confidence interval). Our data indicate that additional studies will be required to determine the true incidence of UPD in this population. © 1995 Wiley‐Liss, Inc.
Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome
Authors: Erdem Güliz , Oran Olcay , Kotiloğlu Esin , Kale Gülsev , Topçu Meral , Renda Yavuz 
Published: June 2005

AbstractZellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal‐recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported. © 1995 Wiley‐Liss, Inc.
Radio‐ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
Authors: Tsukahara Masato , Matsuo Kiyosato , Furukawa Susumu 
Published: June 2005

AbstractWe report on a 9‐year‐old boy with radioulnar synostosis, short stature, microcephaly, soliosis, and mental retardation. We propose that he has a new syndrome. © 1995 Wiley‐Liss, Inc.
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion
Authors: Gelb Bruce D. , Cooper Ed , Shevell Michael , Desnick Robert J. 
Published: June 2005

AbstractCleidocranial dysplasia (CCD) is a generalized skeletal dysplasia with autosomal dominant inheritance. Recently, the CCD disease locus was localized to 23 [Mundlos et al., 1995] and 17 cM regions [Feldman et al., 1995], of chromosome band 6p21 by linkage studies of seven affected families. Of note, the 23 cM region contained a microdeletion detected in one family at D6S459, an interval that was excluded in the 17 cM overlapping region. Here, linkage of CCD to 6p21 was independently confirmed with a maximal two‐point LOD score of Z=5.12 with marker D6S452 at θ=0.00. Recombinant events in two affected individuals defined a CCD region of 7 cM from D6S465 to D6S282, which overlapped with the CCD region containing the microdeletion but did not overlap with the 17 cM critical region from D6S282 to D6S291. These results suggest the refined localization of the CCD region to 6 cM spanning markers D6S438 to D6S282, thereby reviving the possibility that the CCD gene lies within the microdeletion at D6S459. © 1995 Wiley‐Liss, Inc.
Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation
Authors: Kosztolányi György , Weisenbach János , Méhes Károly 
Published: June 2005

AbstractWe have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme underdevelopment of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well‐recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded. © 1995 Wiley‐Liss, Inc.
Use of decision analysis to evaluate patients' choices of diagnostic prenatal test
Authors: Verp Marion S. , Heckerling Paul S. 
Published: June 2005

AbstractWomen with a family history of a chromosomal or genetic abnormality must weigh several factors in choosing between amniocentesis and chorionic villus sampling. We compared the prenatal test choices of three such women with those of decision analytic models that incorporated their prefernces. Patient preferences were assessed using visual linear rating scales. Threshold analysis was used to determine preference ranges, and stochastic sensitivity analysis to provide confidence levels, for each choice of test. The test choices of patients and decision analytic models agreed in one case, and disagreed in two cases. In one of the latter two cases, stochastic and threshold analyses showed the disagreement to be slight; for small shifts in prefernce differences for first‐vs. second‐trimester diagnosis, or firstvs. second‐trimester therapeutic abortion, patient and decision model would have agreed. In the other, stochastic analysis showed their differences to be large; there were no thresholds for early diagnosis, or for early therapeutic abortion, that would have led to agreement between patient and model. In the two cases in which patient and decision model agreed or slightly disagreed, the patients had made their own choice of prenatal test. In the case in which patient and decision model strongly disagreed, the patient's physician had shared in the choice of test. Decision analysis can be useful in analyzing prenatal test choices based on individual prefernces for pregnancy outcomes. When choices of patients and decision models do not agree, examination of the locus of decision making (patient vs. physician) may help resolve apparent differences. © 1995 Wiley‐Liss, Inc.
Craniomicromelic syndrome: A newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation
Authors: Barr Mason , Heidelberger Kathleen P. , Comstock Christine H. 
Published: June 2005

AbstractWe report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder. © 1995 Wiley‐Liss, Inc.
Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses
Authors: Dietzsch Erin , Ramsay Michele , Christianson Arnold L. , Henderson Bertram D. , de Ravel Thomy J. L. 
Published: June 2005

AbstractTwenty‐six highly polymorphic markers were used to determine the origin of the extra haploid chromosome set in 6 triploid fetuses of type II phenotype. All had reached the third trimester of pregnancy. The extra set was maternal in origin in all cases, supporting previous research indicating longer in utero survival of maternally‐derived triploid fetuses. These findings provide evidence for an instance of genomic imprinting in humans. © 1995 Wiley‐Liss, Inc.
Increased first trimester nuchal translucency as a prenatal manifestation of Smith‐Lemli‐Opitz syndrome
Authors: Hyett Jon A. , Clayton Peter T. , Moscoso Gonzalo , Nicolaides Kypros H. 
Published: June 2005

AbstractRoutine ultrasound examination at 11 weeks of gestation in a woman with no family history of genetic disease demonstrated increased accumulation of fluid in the fetal nuchal region. In view of the association of this defect with chromosomal abnormalities, fetal karyotyping was performed by chorion villus sampling and this demonstrated a normal 46,XY karyotype. Subsequent scans showed resolution of the nuchal fluid, and at the 20‐week scan the fetal genitalia appeared to be female. Fetal blood sampling confirmed a normal male karyotype and fetoscopy confirmed the presence of female external genitalia. The parents elected to terminate the pregnancy, and postmortem findings were indicative of Smith‐Lemli‐Opitz syndrome. This was confirmed by the finding of increased levels of 7‐dehydrocholesterol in cultured skin fibroblasts. © 1995 Wiley‐Liss, Inc.
Detection of a subtle rearrangement of chromosome 22 using molecular techniques
Authors: Biesecker Leslie G. , Rosenberg Marjorie , Dziadzio Laura , Ledbetter David H. , Ning Yi , Sarneso Carmella , Rosenbaum Kenneth 
Published: June 2005

AbstractConventional cytogenetics is a useful clinical tool that has a lower limit of sensitivity of 2–5 Mb for detection of duplications of deletions. Because the threshold of clinically significant aneusomy is below this range, there is a need for approaches to improve the sensitivity of the detection of aneusomy. We have implemented a system of screening for subtle unbalanced translocations in children with multiple congenital anomalies of unkonwn cause. Our approach uses subtelomeric microsatellite markers to detect small areas of segmental aneusomy due to unbalanced translocations. Herein we report a patient with severe multiple congenital anomalies and a normal karyotype who was diagnosed by this approach. Microsatellite markers from 41 telomeres were analyzed and were normal with the exception of those on distal chromosome 22. Further analysis with additional microsatellites and fluorescent in in situ hybridization confirmed duplication of 22q13.2‐qter. We conclude that microsatellite screening can detect subtle unbalanced translocations in children with severe anomalies. © 1995 Wiley‐Liss, Inc.
Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: Single causal entity?
Authors: Kishnani Priya , Iafolla A. Kimberly , McConkie‐Rosell Allyn , Van Hove Johan L. K. , Kanter Ronald J. , Kahler Stephen G. 
Published: June 2005

AbstractMost congenital cutaneous hemangiomas are a sporadic occurrence. Hemangiomas have been found in association with coarctation of the aorta and a right aortic arch. A separate association has been noted of midline ventral defects with hemangiomas. We report on a patient with multiple hemangiomas, coarctation of the aorta and a right aortic arch, a supraumbilical midabdominal raphé and sternal cleft. Our patient represents an overlap between these two conditions. Review of the literature identified four additional patients with a similar combination of anomalies. The clinical overlap between these 5 patients suggests that they are variants of the same condition and represent a spectrum of defects that includes hemangiomas, midline ventral defects, aortic arch abnormalities and brain malformation. © 1995 Wiley‐Liss, Inc.
Teebi hypertelorism syndrome: Further observations
Authors: Tsukahara Masato , Uchida Masashi , Shinohara Teruo 
Published: June 2005

AbstractA new autosomal dominant syndrome resembling craniofrontonasal syndrome was identified by Teebi [1987: Am J Med Genet 28:581‐591]. We report on an additional case of Teebi hypertelorism syndrome. A 6‐year‐old girl presented with brachycephaly, peculiar facial appearance resembling mild frontonasal “dysplasia,” small hands and feet with interdigital webbing. In addition, she had previously undescribed manifestations including ventricular septal defect, lipoma of the occipital area, and hypoplastic left hemisphere of the cerebellum. These seem to expand the phenotype of Teebi hypertelorism syndrome. The proposita's father had mild manifestations of the condition including flat occiput, widow's peak, small ears, bulbous nose, brachydactyly with interdigital webbing, and mild shawl scrotum. © 1995 Wiley‐Liss, Inc.