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1.
J Environ Qual ; 45(1): 188-98, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26828174

RESUMO

Urban forestry is an important green infrastructure strategy because healthy trees can intercept rainfall, reducing stormwater runoff and pollutant loading. Surface saturation storage capacity, defined as the thin film of water that must wet tree surfaces before flow begins, is the most important variable influencing rainfall interception processes. Surface storage capacity is known to vary widely among tree species, but it is little studied. This research measured surface storage capacities of 20 urban tree species in a rainfall simulator. The measurement system included a rainfall simulator, digital balance, digital camera, and computer. Eight samples were randomly collected from each tree species. Twelve rainfall intensities (3.5-139.5 mm h) were simulated. Leaf-on and leaf-off simulations were conducted for deciduous species. Stem and foliar surface areas were estimated using an image analysis method. Results indicated that surface storage capacities varied threefold among tree species, 0.59 mm for crape myrtle ( L.) and 1.81 mm for blue spruce ( Engelm.). The mean value across all species was 0.86 mm (0.11 mm SD). To illustrate application of the storage values, interception was simulated and compared across species for a 40-yr period with different rainfall intensities and durations. By quantifying the potential for different tree species to intercept rainfall under a variety of meteorological conditions, this study provides new knowledge that is fundamental to validating the cost-effectiveness of urban forestry as a green infrastructure strategy and designing functional plantings.


Assuntos
Árvores , Movimentos da Água , California , Chuva , Água
2.
J Econ Entomol ; 108(6): 2497-504, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26470370

RESUMO

As well as being planted for wind breaks, landscape trees, and fuel wood, eucalypts are also widely used as urban street trees in California. They now are besieged by exotic insect herbivores of four different feeding guilds. The objective of the current analysis was to determine the return on investment from biological control programs that have targeted these pests. Independent estimates of the total number of eucalypt street trees in California ranged from a high of 476,527 trees (based on tree inventories from 135 California cities) to a low of 190,666 trees (based on 49 tree inventories). Based on a survey of 3,512 trees, the estimated mean value of an individual eucalypt was US$5,978. Thus, the total value of eucalypt street trees in California ranged from more than US$1.0 billion to more than US$2.8 billion. Biological control programs that targeted pests of eucalypts in California have cost US$2,663,097 in extramural grants and University of California salaries. Consequently, the return derived from protecting the value of this resource through the biological control efforts, per dollar expended, ranged from US$1,070 for the high estimated number of trees to US$428 for the lower estimate. The analyses demonstrate both the tremendous value of urban street trees, and the benefits that stem from successful biological control programs aimed at preserving these trees. Economic analyses such as this, which demonstrate the substantial rates of return from successful biological control of invasive pests, may play a key role in developing both grass-roots and governmental support for future urban biological control efforts.


Assuntos
Eucalyptus , Insetos , Controle Biológico de Vetores/economia , Animais , California , Cidades , Análise Custo-Benefício
3.
Anesteziol Reanimatol ; (3): 4-8, 2012.
Artigo em Russo | MEDLINE | ID: mdl-22993913

RESUMO

Due to the ageing of the population, more and more patients older than 80 years are in need of the hip and knee joints total endoprosthesis. The aim of this retrospective study was to describe perioperative mortality and frequency of complications associated with both primary and re-arthroplasty of hip and knee joints in this age group. For more information about demography, the perioperational period and frequency of complications were investigated 59 patient's card, who have had a 71 endoprosthesis operations, carried out by one surgeon. Information on mortality was obtained by means of telephone interviewing. The average level of mortality within 30 days, 1 year and 5 years amounted to 2.0, 6.1 and 10.2% respectively. Compared with other studies conducted over the past 20 years, these results reflect a significant reduction in the mortality, rate. Average frequency of complications in our study was to 52.2%. which corresponds to the previously published data. All the complications were eliminated and did not cause permanent disability. Thanks to the development of anaesthesia, surgical techniques and technologies, joint endoprosthetics can be considered safe in patients older than 80 years.


Assuntos
Artroplastia de Quadril/métodos , Artroplastia do Joelho/métodos , Complicações Pós-Operatórias/epidemiologia , Fatores Etários , Idoso de 80 Anos ou mais , Artroplastia de Quadril/mortalidade , Artroplastia de Quadril/reabilitação , Artroplastia do Joelho/mortalidade , Artroplastia do Joelho/reabilitação , Feminino , Seguimentos , Humanos , Masculino , Prontuários Médicos , Complicações Pós-Operatórias/mortalidade , Reoperação , Estudos Retrospectivos , Inquéritos e Questionários , Análise de Sobrevida , Resultado do Tratamento
4.
Bone Joint Res ; 7(10): 570-579, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30464837

RESUMO

AIMS: Calcium sulphate has traditionally been used as a filler of dead space arising during surgery. Various complications have been described following the use of Stimulan bio-absorbable calcium sulphate beads. This study is a prospective observational study to assess the safety profile of these beads when used in revision arthroplasty, comparing the complication rates with those reported in the literature. METHODS: A total of 755 patients who underwent 456 revision total knee arthroplasties (TKA) and 299 revision total hip arthroplasties (THA), with a mean follow-up of 35 months (0 to 78) were included in the study. RESULTS: A total of 32 patients (4.2%) had wound drainage, and this was higher with higher bead volumes and in McPherson grade C patients. There was also a significantly higher bead volume in the 41 patients who developed hypercalcaemia, two of which were symptomatic (p < 0.0001). A total of 13 patients (1.7%) had heterotopic ossification (HO). There was no statistically significant relationship between the development of HO and bead volume (p > 0.05). CONCLUSION: The strength of this study lies in the large number of patients and the detailed data collection, making it the most comprehensive report available in the literature on the use of calcium sulphate-based bone substitutes.Cite this article: R. Kallala, W. Edwin Harris, M. Ibrahim, M. Dipane, E. McPherson. Use of Stimulan absorbable calcium sulphate beads in revision lower limb arthroplasty: Safety profile and complication rates. Bone Joint Res 2018;7:570-579. DOI: 10.1302/2046-3758.710.BJR-2017-0319.R1.

5.
Cancer Res ; 47(3): 696-9, 1987 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-3802075

RESUMO

We have previously reported that chloroethyl nitrosourea and nitrogen mustard bone marrow toxicity can be selectively reduced by placement of the cytotoxic group on specific positions of a glucose molecule. We have now synthesized and evaluated a new drug in which the mustard cytotoxic group is attached to the carbon-6 position of galactose (C6-GLM). C6-GLM, administered i.p. as a single 10% lethal dose of 15.5 mg/kg, produced a 121% increase in life span (ILS) in mice bearing the ascitic P388 leukemia, compared to a 60% ILS with a 10% lethal dose of nitrogen mustard (P less than 0.01). A single p.o. dose of C6-GLM, 16 mg/kg, produced an ILS of 58%. Against i.p.-implanted B-16 melanoma, i.p. C6-GLM produced a 56% ILS compared to 30% with an equitoxic dose of nitrogen mustard (P less than 0.01). The activity of the two drugs for Ehrlich ascites was comparable, with 60% survivors with the galactose mustard. A single 10% lethal dose of C6-GLM reduced the white blood cells to 74% of control; circulating granulocytes remained at 91% of initial values. With nitrogen mustard, the nadir white blood cell count was 57% of control with an absolute granulocyte count of 70% of initial values (P less than 0.01). The toxicity of melphalan was considerably greater, with a lower and more protracted while blood cell nadir and an absolute neutrophil count nadir of 49% of control. These findings paralleled the relative decrements in bone marrow DNA synthesis produced by the three drugs. Measurement of human bone marrow granulocyte-macrophage colony-forming units, following in vitro exposure to graded concentrations of the three mustards, confirmed the bone marrow sparing properties of C6-GLM. At the highest concentration, 1 X 10(-2) mM, the latter drug produced only a 33% reduction in colonies compared to a 75% reduction with nitrogen mustard and a virtual elimination of activity of colony-forming units with melphalan. The demonstration of antitumor activity, at least equivalent to nitrogen mustard, without the necessity of significant bone marrow toxicity supports the development of C6-GLM for clinical trials in humans.


Assuntos
Medula Óssea/patologia , Galactosamina/análogos & derivados , Células-Tronco Hematopoéticas/citologia , Leucemia P388/tratamento farmacológico , Leucemia Experimental/tratamento farmacológico , Animais , Medula Óssea/efeitos dos fármacos , Replicação do DNA/efeitos dos fármacos , Avaliação Pré-Clínica de Medicamentos , Feminino , Galactosamina/uso terapêutico , Galactosamina/toxicidade , Células-Tronco Hematopoéticas/efeitos dos fármacos , Leucopenia/induzido quimicamente , Masculino , Mecloretamina/toxicidade , Melfalan/toxicidade , Camundongos , Camundongos Endogâmicos DBA , Neutrófilos/citologia , Relação Estrutura-Atividade
6.
Am J Med Genet ; 62(1): 58-60, 1996 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-8779326

RESUMO

A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. These findings are not consistent with any previously recognized syndrome and represent a new condition with probable autosomal recessive inheritance.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos Cromossômicos , Genes Recessivos , Fenda Labial/genética , Fissura Palatina/genética , Face/anormalidades , Evolução Fatal , Feminino , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Intestinos/anormalidades , Masculino
7.
Am J Med Genet ; 70(1): 28-31, 1997 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-9129737

RESUMO

We describe a patient who was born with flexion contractures and pterygia at the elbows, clubfeet, torticollis, and several rib fractures. During infancy and childhood, multiple fractures of the lower limbs occurred with minimal trauma and led to disabling deformities. When evaluated at age 19 years, he was normally intelligent, but extremely short, with severe kyphoscoliosis compromising his pulmonary function. Pterygia limited elbow extension to 90 degrees, and severe lower limb deformities prevented ambulation. He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss. X-ray studies showed demineralized bones, severe deformity and cystic change at old fracture sites, and vertebral wedging. Collagen studies on skin fibroblasts were normal.


Assuntos
Contratura/complicações , Artropatias/complicações , Osteogênese Imperfeita/complicações , Anormalidades Múltiplas , Adulto , Contratura/congênito , Contratura/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Artropatias/congênito , Artropatias/diagnóstico por imagem , Masculino , Osteogênese Imperfeita/diagnóstico por imagem , Radiografia
8.
Am J Med Genet ; 26(3): 645-9, 1987 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-3105315

RESUMO

We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. Developmental delay was noted in the son, and the mother was noted to have a heart murmur. There was a family history of café-au-lait spots, and photographs of several of these relatives showed a facial appearance suggesting Noonan syndrome. The presence of neurofibromatosis associated with Noonan syndrome manifestations in our related patients suggests presence of a unique disorder sharing characteristics of both conditions.


Assuntos
Neurofibromatose 1/genética , Síndrome de Noonan/genética , Adulto , Pré-Escolar , Feminino , Humanos , Masculino , Neurofibromatose 1/complicações , Síndrome de Noonan/complicações
9.
Am J Med Genet ; 86(5): 430-3, 1999 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-10508984

RESUMO

In order to study the pathogenesis of prenatal deformities, we reviewed maternal histories, delivery records, pathology reports, radiographs, and photographs of 90 fetuses with prenatally documented oligohydramnios at gestational ages from 14 weeks to term. The causes of oligohydramnios included premature rupture of membranes (44 cases), fetal renal insufficiency (25 cases), idiopathic (15 cases), and twin-twin transfusion (6 cases). The fetuses were grouped according to gestational age at delivery and duration of oligohydramnios. Sixty-three fetuses (70%) had documented contractures. As expected, contractures were more frequent with earlier onset and longer duration of oligohydramnios. During the 2nd trimester, the frequency of contractures in fetuses with oligohydramnios was 77% compared to 52% in the 3rd trimester (chi(2) = 5.33, 1 df, P =.02). Considering all gestational ages together, 57% of fetuses had contractures after less than 2 weeks of oligohydramnios compared to 81% of fetuses with a longer duration of oligohydramnios (chi2 = 6.23, 1 df, P <.02). The type of contracture varied with gestational age. Clubfoot was the most frequent at all ages, but hand contractures such as camptodactyly were common only in the 2nd trimester while the broad flat hand originally described in Potter sequence was found almost exclusively in the fetuses with oligohydramnios in the 3rd trimester. Of the 63 fetuses with oligohydramnios and contractures, 25 (40%) had either additional malformations or family history that could explain contractures independent of oligohydramnios.


Assuntos
Deformidades Congênitas do Pé/etiologia , Deformidades Congênitas da Mão/etiologia , Oligo-Hidrâmnio/fisiopatologia , Descolamento Prematuro da Placenta , Pé Torto Equinovaro/etiologia , Doenças em Gêmeos/embriologia , Feminino , Ruptura Prematura de Membranas Fetais , Idade Gestacional , Humanos , Rim/embriologia , Nefropatias/embriologia , Oligo-Hidrâmnio/etiologia , Gravidez , Segundo Trimestre da Gravidez , Estudos Retrospectivos
10.
Am J Med Genet ; 11(3): 273-85, 1982 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7081293

RESUMO

Study of phenotype and familial distribution of malignant hyperthermia (MH) suggests heterogeneity with MH possibly being a symptom of several disorders. Review of all reported family studies supports the concept of heterogeneity with autosomal dominant inheritance in about one-half of the families. There is no strong evidence for other mendelian patterns of inheritance, but sporadic and possibly multifactorially determined cases are common. MH is also seen in other musculoskeletal disorders. We report 12 Wisconsin families with MH and outline a preliminary approach to the counseling of MH patients and their families.


Assuntos
Hipertermia Maligna/genética , Doenças Ósseas/complicações , Creatina Quinase/metabolismo , Suscetibilidade a Doenças , Feminino , Genes Dominantes , Aconselhamento Genético , Variação Genética , Humanos , Masculino , Hipertermia Maligna/diagnóstico , Doenças Musculares/complicações , Linhagem , Fenótipo
11.
Am J Med Genet ; 8(2): 159-65, 1981.
Artigo em Inglês | MEDLINE | ID: mdl-7282770

RESUMO

Heterogeneity in malignant hyperthermia is being recognized with increasing frequency. In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. Seven cases have been reported, all in males. We present the case of a girl with similar clinical findings who died in a malignant hyperthermia crisis and review the previously reported cases of King syndrome. The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia crisis in King syndrome patients.


Assuntos
Anormalidades Múltiplas/genética , Hipertermia Maligna/genética , Doenças Musculares/genética , Adolescente , Criança , Creatina Quinase/sangue , Feminino , Humanos , Masculino , Linhagem , Síndrome
12.
Am J Med Genet ; 36(1): 11-4, 1990 May.
Artigo em Inglês | MEDLINE | ID: mdl-2333899

RESUMO

We report on the third confirmed case of trisomy 22 in a liveborn infant. High-resolution banding studies ruled out translocations such as the relatively common t(11;22). The infant shared many manifestations with other reported cases of trisomy 22 (e.g., growth deficiency, microcephaly, micrognathia, ear malformations, cleft palate, and congenital heart defect) and some manifestations in common with dup 22. Trisomy 22 appears to cause a severe malformation syndrome, and survival to term is rare.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 22 , Trissomia , Fissura Palatina/genética , Orelha Externa/anormalidades , Transtornos do Crescimento/genética , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Cariotipagem , Masculino , Microcefalia/genética , Micrognatismo/genética
13.
Am J Med Genet ; 37(3): 318-9, 1990 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-2260557

RESUMO

Cleft lip and palate were described previously in two patients with Aicardi syndrome; this report presents a third similarly affected child. Thus, facial clefts may be an occasional manifestation of Aicardi syndrome.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Agenesia do Corpo Caloso , Encéfalo/anormalidades , Feminino , Humanos , Lactente , Deficiência Intelectual , Convulsões , Síndrome
14.
Am J Med Genet ; 50(2): 187-9, 1994 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-7516625

RESUMO

A 3-year-old girl is reported with dup (20p) resulting from 3:1 segregation of a de novo t(20;21). The proposita presented with minor anomalies, developmental delay, a clinical phenotype suggestive of 20p trisomy, and a karyotype with a 21p+ and an additional small marker chromosome. Conventional cytogenetic techniques were not informative for the identification of the origin of the extra material of chromosome 21p nor for the marker chromosome. The 21p+ and marker chromosomes were successfully characterized using fluorescent in situ hybridization (FISH).


Assuntos
Cromossomos Humanos Par 20 , Cromossomos Humanos Par 21 , Deficiências do Desenvolvimento/genética , Família Multigênica , Pré-Escolar , Bandeamento Cromossômico , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Fenótipo
15.
Am J Med Genet ; 47(2): 241-5, 1993 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-8213912

RESUMO

Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate, diaphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition. We report on an infant with many manifestations of Fryns syndrome ("coarse" face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). Her diagnosis was changed to Pallister-Killian syndrome and the family was counselled accordingly. The clinical overlap between Fryns and Pallister-Killian syndromes is discussed. Because the chromosome abnormality in Pallister-Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister-Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. Newborn infants with the Fryns or Pallister-Killian phenotypes should have chromosome studies involving multiple tissues so that the correct diagnosis can be made. This will contribute to the understanding of both disorders and facilitate appropriate genetic counselling.


Assuntos
Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Face/anormalidades , Mosaicismo , Anormalidades Múltiplas/diagnóstico , Fissura Palatina/genética , Diagnóstico Diferencial , Evolução Fatal , Feminino , Genes Letais , Deformidades Congênitas da Mão/genética , Hérnias Diafragmáticas Congênitas , Humanos , Recém-Nascido , Cariotipagem , Síndrome
16.
Am J Med Genet ; 66(3): 300-2, 1996 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-8985491

RESUMO

The Floating Harbor syndrome of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with cardiac anomalies, except for one patient with pulmonic stenosis. We report on a 10-year-old boy with the syndrome and tetralogy of Fallot with atrial septal defect.


Assuntos
Anormalidades Múltiplas , Comunicação Interatrial , Tetralogia de Fallot , Determinação da Idade pelo Esqueleto , Criança , Clavícula/anormalidades , Clavícula/diagnóstico por imagem , Anormalidades Craniofaciais , Deficiências do Desenvolvimento , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem , Masculino , Síndrome
17.
Am J Med Genet ; 113(4): 375-80, 2002 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-12457411

RESUMO

We report three cases of tetrasomy 9p, two of which were confirmed prenatally. All three had characteristic findings on ultrasound and at birth. We also present a review of the literature, which suggests that a recognizable phenotype for this condition is emerging. Common findings on prenatal ultrasound include intrauterine growth restriction, ventriculomegaly, cleft lip or palate, and renal anomalies. These findings can provide a clue toward the prenatal diagnosis of this condition. There is also a clearly recognizable phenotype at birth. Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, cleft lip/palate, ear anomalies, and micrognathia. The exact extent of the isochromosome does not seem to predict severity, but mosaic cases are less severe, or at least have a greater probability of survival.


Assuntos
Anormalidades Múltiplas/diagnóstico , Aneuploidia , Cromossomos Humanos Par 9 , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Amniocentese , Anormalidades Craniofaciais , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Cariotipagem , Fenótipo , Gravidez , Diagnóstico Pré-Natal/métodos , Síndrome , Ultrassonografia Pré-Natal
18.
Am J Med Genet ; 45(4): 519-24, 1993 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-8465861

RESUMO

Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence of affected sibs and parental consanguinity.


Assuntos
Anormalidades Múltiplas/patologia , Craniossinostoses/patologia , Anormalidades Múltiplas/genética , Adulto , Canal Anal/anormalidades , Sistema Nervoso Central/anormalidades , Craniossinostoses/genética , Feminino , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Gravidez , Coluna Vertebral/anormalidades , Síndrome , Polegar/anormalidades , Anormalidades Urogenitais
19.
Am J Med Genet ; 55(3): 302-6, 1995 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-7726227

RESUMO

We report a new kindred containing 4 patients with X-linked alpha-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.


Assuntos
Transtornos do Desenvolvimento Sexual/genética , Deficiência Intelectual/genética , Cromossomo X , Talassemia alfa/genética , Anormalidades Múltiplas/genética , Pré-Escolar , Mecanismo Genético de Compensação de Dose , Face/anormalidades , Feminino , Ligação Genética , Hemoglobina H/análise , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
20.
Am J Med Genet ; 71(4): 430-3, 1997 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-9286450

RESUMO

Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with or without a mildly affected parent, both autosomal recessive and autosomal dominant inheritance have been suggested. All previous patients with well-documented Coffin-Siris syndrome are chromosomally normal, and the gene has not been mapped. We report on an infant with typical findings of Coffin-Siris syndrome who also has a de novo apparently balanced translocation of chromosomes 1 and 7, karyotype 46,XY,t(1;7)(q21.3;q34). The parental chromosomes are normal and none of the relatives have signs of Coffin-Siris syndrome. The breakpoints 1q21.3 and 7q34 are suggested as possible locations for a Coffin-Siris gene.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 7 , Face/anormalidades , Deficiência Intelectual/genética , Translocação Genética , Mapeamento Cromossômico , Humanos , Lactente , Cariotipagem , Masculino , Síndrome
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