bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23
Authors: Kulharya Anita S. , Roop Heidi , Kukolich Mary K. , Nachtman Ronald G. , Belmont John W. , Garcia‐Heras Jaime 
Published: June 2005

AbstractWe report on a girl with a de novo mono‐somy Xpter→Xp22.3 and trisomy 3pter→3p23, normal development and stature, mildly affected phenotype, and learning disabilities with a low normal level of intelligence. Late replication studies using BudR demonstrated that the entire der(X) was inactive in 30% of cells. In 62% of cells the inactivation did not spread to the autosomal segment in the der(X). The normal X was inactivated in 8% of cells. Quantitative X‐inactivation studies using the human androgen receptor locus assay (HAR) on peripheral leukocytes and buccal epithelial cells showed extreme skewing of methylation (90.4% of the paternal allele). The correlation of cytogenetic and molecular data suggest that the mild phenotype of the proposita is most likely due to preferential inactivation of the entire der(X), which seems to be of paternal origin. © 1995 Wiley‐Liss, Inc.
Upper limb malformations in DiGeorge syndrome
Authors: Cormier‐Daire V. , Iserin L. , Théophile D. , Sidi D. , Vervel C. , Padovani J. P. , Vekemans M. , Munnich A. , Lyonnet S. 
Published: June 2005

AbstractWe report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22qll deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22qll deletions. © 1995 Wiley‐Liss, Inc.
Lymphangiosarcoma in late‐onset hereditary lymphedema: Case report and nosological implications
Authors: Andersson Hans C. , Parry Dilys M. , Mulvihill John J. 
Published: June 2005

AbstractHereditary lymphedemas that are not associated with other malformations usually affect the lower limbs and are inherited in an autosomal dominant fashion. These non‐syndromic hereditary lymphedemas are categorized by their age of onset, being either congenital (Milroy disease) or having an onset in childhood or around puberty (Meige disease). We describe a family in which three individuals in three generations had unusually late onset of lym‐phedema in their mid‐twenties or thirties. The proband additionally developed a very rare lymphangiosarcoma. This tumor, usually associated with post‐mastectomy lym‐phedema, has not been described in late‐onset hereditary lymphedema. Because of an unusually high incidence of multiple primary tumors in association with lymphangiosarcoma in the literature (approximately 10%) and the proband's own familial cancer background, we speculate that an inherited predisposition to malignancy may underlie the development of lymphedema‐associated lymphangiosarcoma. © 1995 Wiley‐Liss, Inc.
Premature centromere division: A possible manifestation of chromosome instability
Authors: Méhes K. , Bühler Erica M. 
Published: June 2005

AbstractRetrospective analysis of “routine” chromosome preparations from 2 patients with Fanconi anemia and 2 others with ataxia‐teleangiectasia showed increased chromosome breakage and a tendency to premature centromere division (PCD) with special reference to early separation of the large aero‐centric (13–15) chromosomes. The findings suggest that PCD may be a manifestation of chromosome instability related to potential malignancy. © 1995 Wiley‐Liss, Inc.
Somatic mosaicism for a DMD gene deletion
Authors: Saito Kayoko , Ikeya Kiyoko , Kondo Eri , Komine Satoshi , Komine Maki , Osawa Makiko , Aikawa Eizou , Fukuyama Yukio 
Published: June 2005

AbstractMosaicism is a mixed state, with two cell populations of different genetic origins caused by a cell mutation occurring after fertilization. In the present case, DNA analysis of lymphocytes led to a DMD diagnosis before death. Postmortem immunocyto‐chemical and DNA analysis showed somatic mosaicism. At age 18 years, blood lymphocyte DNA analysis showed a DMD gene deletion, upstream from exon 7 to the 5′ end containing both muscle and brain promoters. As the patient's mother and elder sister had no deletions, he was considered to have a new mutation. Immunocytochemical studies of postmortem tissues showed that dystrophin was absent from the tongue, deltoid, intercostal, psoas and rectus femoris muscles, but there was a mix of dystrophin‐positive and negative fibers in the rectus abdominis, cardiac, temporalis and sternocleidomastoid muscles. All diaphragm cells were dystrophin positive. Polymerase chain reaction (PCR) amplification from all tissues except the temporalis and sternocleidomastoid muscles, diaphragm and kidney, in which no deletion was found, showed the deletion from at least exon 6 to the 5′ end containing both muscle and brain promoters. In this case, a genomic deletion of the DMD gene contributed to the formation of tissues derived from both ectoderm and endoderm, and cells of mesodermal origin showed geno‐typic and phenotypic heterogeneity. Our results indicate a mutation of the present case may have occurred just before the period of germ layer formation. © 1995 Wiley‐Liss, Inc.
X microchromosome with additional chromosome anomalies found in Ullrich‐Turner syndrome
Authors: Wydner Karen L. , Li Mengrong , Singer‐Granick Carol , Sciorra Leonard J. , Krueger Leslie J. 
Published: June 2005

AbstractUsing standard cytogenetic methods coupled with molecular techniques, the following karyotype mos 45,X/46,XXq+/46,X+mar (X)/47,XXq+,+mar(X), was identified in a patient with Ullrich‐Turner syndrome (UTS). High‐resolution banding (n = 650) of the metaphase chromosomes yielded a breakpoint at q28 on the Xq+ rearranged chromosome. FISH was used to determine the presence of Y‐containing DNA in the Xq+ and the mar(X) chromosomes. The following molecular probes were used: DYZ1, DYZ3, and spectrum orange WCP Y. The lack of specific hybridization of these probes was interpreted as a low risk of gonadoblastoma in this patient. Using X‐chromosome‐ and centromerespecific probes, FISH demonstrated the presence of hybridizing material on both rearranged chromosomes, the Xq+ and mar(X). Finally, we determined that the mar(X) and Xq+ chromosomes contained telomeres in the absence of any interstitial telomeric hybridizing material. A micro‐X chromosome is present in this UTS patient. Delineation of events leading toward the mechanisms responsible for the multiple DNA rearrangements required to generate the micro‐X and Xq+ chromosomes awaits future studies. © 1995 Wiley‐Liss, Inc.
New autosomal recessive form of amelia
Authors: Michaud Jacques , Filiatrault Denis , Dallaire Louis , Lambert Marie 
Published: June 2005

AbstractAmelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs. The fetuses also had minor facial anomalies. Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs. © 1995 Wiley‐Liss, Inc.
Renal tubular acidosis in the Silver‐Russell syndrome
Authors: Alvarenga Ramón , del Angel Ariadna González , del Castillo Victoria , de la Puente Silvestre García , Maulén Irene , Carnevale Alessandra 
Published: June 2005

AbstractSeveral patients with the Silver‐Russell syndrome (SRS) attending our Genetics Clinic were diagnosed as having persistent metabolic acidosis. Since this abnormality has not been reported previously in the SRS, we reexamined 33 SRS patients to evaluate the frequency and type of metabolic acidosis, the clinical and laboratory findings, and the growth pattern in SRS patients with and without metabolic acidosis. Among them, 14 had a consistent decrease in HCO levels. Renal studies in acidotic patients showed urine pH of 5.8 and 24 h urine calcium of <2.4 mg/kg/24 h; serum creatinine, excretion of glucose, and aminoacids were normal, as were renal ultrasound and excretory urography findings. These data supported the diagnosis of renal tubular acidosis, probably type II; the patients were treated with oral bicarbonate and acidosis was corrected successfully. Clinical manifestations were similar in acidotic and non‐acidotic patients. The nutritional indices at diagnosis and at last evaluation (at least 8 months after diagnosis) were abnormally low in all patients; however, acidotic patients, treated with bicarbonate, showed an improvement of nutritional status particularly in the weight/height index, although the difference between groups after follow‐up did not reach statistical significance. We suggest that metabolic acidosis due to renal tubular acidosis, probably type II, may occur in children with the SRS and should be looked for and treated in all patients. © 1995 Wiley‐Liss, Inc.
Screening for mtDNA diabetes mutations in Pima Indians with NIDDM
Authors: Sepehrnia Bahman , Prezant Toni R. , Rotter Jerome I. , Pettitt David J. , Knowler William C. , Fischel‐Ghodsian Nathan 
Published: June 2005

AbstractMore than half of the Pima Indians over age 35 years have non‐insulin‐dependent (type II) diabetes mellitus (NIDDM). Extensive data indicate the importance of maternal diabetes in determining their risk for diabetes. Generally, the risk of having NIDDM is higher in patients with affected mothers than affected fathers. This has been attributed to intrauterine factors, but recently mitochondrial inheritance has been raised as an alternative hypothesis. In other populations, several families and individuals with diabetes due to a mitochondrial DNA point mutation at nucleotide 3243 in the tRNA leu(UUR) gene have been described, as has one family with a 10.4 kb mitochondrial DNA duplication/deletion. We tested whether these specific mitochondrial gene mutations could explain a portion of the excess maternal transmission seen in the Pima Indians. Mitochondrial DNA obtained from blood lymphocytes of 148 Pima Indians with NIDDM was screened both for the point mutation at nt 3243, and the 10.4 kb duplication/ deletion. Neither of these mutations was detected, and although a small proportion of the excess maternal transmission in Pima Indians could still be due to yet undescribed mitochondrial mutations or imprin‐ted nuclear genes, our data support the role of the intrauterine environment in this population. © 1995 Wiley‐Liss, Inc.
Non‐random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann‐Beckwith syndrome
Authors: Eliseörstavik Ragnhild , Tommerup Niels , Eiklid Kristin , Heleneörstavik Karen 
Published: June 2005

AbstractWiedemann‐Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15.5, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process of X chromosome inactivation. We have therefore studied X chromosome inactivation in 13‐year‐old monozygotic twin girls who were discordant for WBS. In addition, both twins had Tourette syndrome. The twins were monochorionic and therefore the result of a late twinning process. This has also been the case in previously re‐ported discordant twin pairs with infor‐mation on placentation. X chromosome inactivation was determined in DNA from peripheral blood cells by PCR analysis at the androgen receptor locus. The affected twin had a completely skewed X inactiva‐tion, where the paternal allele was on the active X chromosome in all cells. The unaf‐fected twin had a moderately skewed X in‐activation in the same direction, whereas the mother had a random pattern. Further studies are necessary to establish a possible association between the expression of WBS and X chromosome inactivation. © 1995 Wiley‐Liss, Inc.
Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization
Authors: Chen Harold , Tuck‐Muller Cathy M. , Batista Denise A. S. , Wertelecki Wladimir 
Published: June 2005

AbstractWe report on a 15‐year‐old black boy with severe mental retardation, multiple congenital anomalies, and a supernumerary ring chromosome mosaicism. Fluorescence in situ hybridization with a chromosome 1 painting probe (pBS1) identified the ring as derived from chromosome 1. The karyotype was 46,XY/47,XY,+r(1)(p13q23). A review showed 8 reports of ring chromosome 1. In 5 cases, the patients had a non‐supernumerary ring chromosome 1 resulting in partial monosomies of the short and/or long arm of chromosome 1. In 3 cases, the presence of a supernumerary ring resulted in partial trisomy of different segments of chromosome 1. In one of these cases the supernumerary ring was composed primarily of the centromere and the heterochromatic region of chromosome 1, resulting in normal phenotype. Our patient represents the third report of a supernumerary ring chromosome 1 resulting in abnormal phenotype. © 1995 Wiley‐Liss, Inc.
FISH analysis in Prader‐Willi and Angelman syndrome patients
Authors: Bettio D. , Rizzi N. , Giardino D. , Grugni G. , Briscioli V. , Selicorni A. , Carnevale F. , Larizza L. 
Published: June 2005

AbstractWe report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader‐Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11‐q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of Smith‐Lemli‐Optiz syndrome
Authors: McGaughran J. M. , Clayton P. T. , Mills K. A. , Rimmer S. , Moore L. , Donnai D. 
Published: June 2005

AbstractAn abnormality in cholesterol synthesis was described recently in the Smith‐Lemli‐Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis. We also discuss the possible use of this test in detecting heterozygotes. © Wiley‐Liss, Inc.
Autosomal recessive Melnick‐Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report
Authors: Hamel Ben C. J. , Draaisma Jos M. T. , Pinckers Alfred J. L. G. , Boetes Carla , Hoppe Rainer L. E. , Ropers Hans‐Hilger , Brunner Han G. 
Published: June 2005

AbstractWe report on a patient with congenital glaucoma, brachycephaly with flat occiput, large anterior fontanel, hypertelorism, anteverted nostrils, thoracolumbar kyphosis, prominent coccyx with skin fold, short hands and feet, flexion deformity of fingers, and clubfeet. He had a double‐outlet right ventricle with ventricular septal defect, and severe tricuspid insufficiency. Mild skeletal changes included short tubular bones, absence of distal phalanges of toes, caliber variation of ribs, and scalloping of the anterior surface of vertebrae. The patient died at age 21 months. He belongs to the same extended family as 3 similarly affected patients, previously described by ter Haar et al. [1982: Am J Med Genet 13:469–477] as representing an autosomal recessive form of Melnick‐Needles syndrome. We believe this diagnosis is no longer tenable. After having reviewed the relevant literature, we conclude that most probably we are dealing with a new autosomal recessive syndrome. We propose to name this entity ter Haar syndrome. © Wiley‐Liss, Inc.
Longitudinal observations on 15 children with Wiedemann‐Beckwith syndrome
Authors: Weng Elaine Y. , Moeschler John B. , Graham John M. 
Published: June 2005

AbstractWe conducted a follow‐up study on 15 patients with Wiedemann‐Beckwith syndrome (WBS) to further clarify major and minor diagnostic clinical characteristics and long‐term expectations for growth and development. We found patients with WBS tended to have polyhydramnios with large placentas which were almost twice normal placental weight. The large fetal size and polyhydramnios often resulted in early delivery with occasional perinatal mortality (three cases). Increased placental size, with associated polyhydramnios resulting in excessive umbilical cord length, may be useful in suspecting WBS prior to delivery, thereby facilitating perinatal management. The presence of abdominal wall defects and/or macroglossia may help to confirm the diagnosis. At birth, patients were almost 2 standard deviations above the expected mean for gestational age, length, and weight. This trend continued through early childhood and then excessive size became less dramatic with increasing age. We detected no cytogenetic variations in nine patients who had studies done and, to date, no tumors have been detected other than a gastric teratoma that was evident in one infant at birth. Longitudinally, the children have not had an unusual incidence of medical problems, and long‐term ultrasound monitoring was not burdensome to the families. In comparison, mental and social development to unaffected siblings and cousins appeared normal. © 1995 Wiley‐Liss, Inc.
Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)
Authors: Martínez‐Frías María‐Luisa , Urioste Miguel , Bermejo Eva , Rodríguez‐Pinilla Elvira , Félix Valentín , Paisán Luis , Martínez Salvador , Egüés Javier , Gómez Francisco , Aparicio Paulino , Cucalón Fermín , Arroyo Antonio , Meipp Christian , Vázquez Socorro , Rodríguez José Ignacio , Rosa Alejandro , García José , Jiménez Nicolás , Moro Carmen 
Published: June 2005

AbstractLubinsky [Am J Med Genet 3: 23–28, 1987] has suggested that the properties of the midline involve early determinative informational processes and are related to the midline's position and definition of the body's plane of symmetry. Opitz [Am J Med Genet 21: 175‐176, 1985, BD: OAS XXIX(1): 3–37 1993] has pointed out that the laterality sequences represent a midline developmental field complex. Thus, bilateral left‐sidedness (with asplenia) and bilateral right‐sidedness (with polysplenia) have been considered laterality sequences or syndromes if cause is known.Using the malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we performed a clinical/epidemiological analysis of the relationship between midline defects and alteration of normal body asymmetry and symmetry. The results support the assumption that both conditions could be consequence of disturbances in the midline primary developmental field. © 1995 Wiley‐Liss, Inc.
Tay‐sachs disease in persons of French‐Canadian heritage in northern New England
Authors: Palomaki Glenn E. , Williams Josephine , Haddow James E. , Natowicz Marvin R. 
Published: June 2005

AbstractThis study sought to determine whether persons of French‐Canadian heritage in northern New England are at high risk for the lethal infantile form of Tay‐Sachs disease. In order to accomplish this, death records and laboratory diagnostic records were surveyed to ascertain Tay‐Sachs deaths in a cohort of 372,000 live births between 1977–1986. The proportion of the total population with French‐Canadian or Jewish heritage was determined from census and birth records, and the ethnic background of Tay‐Sachs cases was determined from the corresponding birth records. In 1,860 births, both parents were of Ashkenazi Jewish heritage. One of those children was diagnosed with Tay‐Sachs disease. In 41,000 births, both parents were of French‐Canadian heritage, and in an additional 93,000 births, one parent was of French‐Canadian heritage. No cases of Tay‐Sachs disease were identified in the offspring of those individuals. Approximately 14 cases (95% confidence interval 8–20) would be expected, if the gene frequency approximated that reported for individuals of Ashkenazi Jewish heritage. Based on the results of this study, routine testing for Tay‐Sachs disease heterozygosity is not indicated for persons of French‐Canadian heritage in northern New England. This conclusion may not necessarily be valid for persons of French‐Canadian heritage residing in other states. Further studies of Tay‐Sachs disease mutations and prevalence among persons of French‐Canadian heritage will be important to determine possible regional variations in gene frequencies. © 1995 Wiley‐Liss, Inc.
Familial occurrence of patent ductus arteriosus
Authors: Sletten Lisa J. , Pierpont Mary Ella M. 
Published: June 2005

AbstractWe describe 7 relatives with patent ductus arteriosus (PDA) and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide‐set eyes, downturned palpebral fissures, mild ptosis, thickened lips, and apparently slightly low‐set ears. Autosomal dominant inheritance is suggested in this family. Other families where affected members have PDA and a similar facial appearance and autosomal dominant inheritance were described previously by Char [1978: BD:OAS XIV (6B):303–305] and Temple [1992: Clin Dysmorphol 1:17‐21]. © 1995 Wiley‐Liss, Inc.
Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies
Authors: Spikes Aimee S. , Hegmann Katherine , Smith Janice L. , Shaffer Lisa G. 
Published: June 2005

AbstractA child with multiple congenital anomalies was referred for cytogenetic evaluation. G‐banded analysis showed a complex chromosome rearrangement involving 6 different chromosomes and 10 breakpoints. Fluorescence in situ hybridization (FISH) using whole chromosome painting probes and repetitive sequence probes was performed. In most cases the painting probes alone helped to clarify the G‐banded results. However, in one instance, where the terminal band of the long arm of chromosome I was involved, the use of a telomeric probe was essential in defining the rearrangement. © 1995 Wiley‐Liss, Inc.
Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11–q13
Authors: Spinner Nancy B. , Zackai Elaine , Cheng Sou‐De , Knoll Joan H. M. 
Published: June 2005

AbstractWe have studied a patient with Angelman syndrome (AS) and a 47,XY,+inv dup(15) (pter→q11::q11→pter) karyotype. Molecular cytogenetic studies demonstrated that one of the apparently normal 15s was deleted at loci D15S9, GABRB3, and D15S12. There were no additional copies of these loci on the inv dup (15). The inv dup (15) contained only the pericentromeric sequence D15Z1. Quantitative DNA analysis confirmed these findings and documented a standard large deletion of sequences from 15q11‐q13, as usually seen in patients with AS. DNA methylation testing at D15S63 showed a deletion of the maternally derived chromosome. AS in this patient can be explained by the absence of DNA sequences from chromosome 15q11‐q13 on one of the apparently cytogenetically normal 15s, and not by the presence of an inv dup (15). This is the fourth patient with an inv dup (15) and AS or Prader Willi syndrome, who has been studied at the molecular level. In all cases an additional alteration of chromosome 15 was identified, which was hypothesized to be the cause of the disease. Patients with inv dup (15)s may be at increased risk for other chromosome abnormalities involving 15q11‐q13. © 1995 Wiley‐Liss, Inc.