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1.
Reprod Domest Anim ; 52(5): 791-797, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28406529

RESUMO

This study assessed the accuracy of the commercial BioPRYN® ELISA for the detection of pregnancy-specific protein-B (PSPB) using a single blood sample to determine pregnancy status in American bison (Bison bison). A total of 49 bison cows were used in the study, and sampled at two time-points during the gestation period, fall and spring, correlating with early- to mid-term gestation (average 62.9 days post-mating) and mid- to late-term gestation (average 229.2 days post-mating), respectively. Sensitivity of the test during early- to mid-term gestation sampling period (fall) was 87.1%, while specificity was 100%; sensitivity of the test during late-term gestation sampling period (spring) was 96.3%, while specificity remained at 100%. In total, the test showed a total sensitivity of 91.4%, specificity of 100% and total accuracy of 93.8%, similar to domestic cattle. Use of the single-sample BioPRYN® ELISA in American Bison for pregnancy diagnosis is economical and practical, minimizing animal handling time, frequency and subsequent stress while providing accurate results for pregnancy diagnosis at 62 days post-mating. This method should be considered over more traditional pregnancy diagnosis methods for use in managed bison herds.


Assuntos
Bison , Ensaio de Imunoadsorção Enzimática/veterinária , Proteínas da Gravidez/sangue , Testes de Gravidez/veterinária , Animais , Ensaio de Imunoadsorção Enzimática/métodos , Feminino , Gravidez , Testes de Gravidez/métodos , Estações do Ano , Sensibilidade e Especificidade
2.
Avian Dis ; 47(2): 493-8, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12887213

RESUMO

During August 2001, a syndrome characterized by acute lethargy and dyspnea was observed in a population of 45 lorikeets and lories in an open-air zoologic exhibit. The first death occurred on August 10, and within the next 12 days, nine more birds died (22% mortality rate). Hepatomegaly, reddening and congestion of the lungs, and injection of the serosal surface of the intestines were the common gross findings. Histologic changes, including fibrinonecrotic hepatitis and splenitis, bacterial emboli (liver, spleen, lung, kidney, proventriculus), pulmonary congestion and hemorrhage, and enteritis, were indicative of an acute, overwhelming bacterial septicemia. Salmonella typhimurium, with the same antibiogram, was isolated from four birds. Several birds had attacked and killed a snake on July 24, and Salmonella serogroup B (untypeable) was isolated from intestine and kidney samples of a garter snake caught in the open-air exhibit on August 28. Salmonella was also isolated from environmental samples of the exhibit but not from food preparation areas. After antimicrobial therapy, Salmonella spp. was not isolated from the surviving birds. The source of Salmonella in this outbreak remains unknown, but infection either directly or indirectly from snakes in the exhibit is possible. Contact between captive psittacine populations and reptiles should be avoided to prevent the risk of salmonellosis.


Assuntos
Animais de Zoológico/microbiologia , Surtos de Doenças/veterinária , Fluoroquinolonas , Papagaios/microbiologia , Salmonelose Animal/epidemiologia , Animais , Anti-Infecciosos/uso terapêutico , Enrofloxacina , Controle de Infecções , Fígado/microbiologia , Pulmão/microbiologia , Quinolonas/uso terapêutico , Salmonelose Animal/tratamento farmacológico , Salmonelose Animal/prevenção & controle , Salmonella typhimurium , Serpentes/microbiologia , Baço/microbiologia
3.
Comp Med ; 50(1): 59-68, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10987671

RESUMO

BACKGROUND AND PURPOSE: Callitrichids (marmosets and tamarins) are extremely susceptible to experimental tumor induction by herpesviruses native to other primate species. A colony of common marmosets developed a syndrome of weight loss, inappetence, diarrhea, and in several animals, palpable abdominal masses. METHODS: Marmosets in the colony were subjected to histologic examination and serologic testing for Epstein-Barr virus (EBV). The DNA from tumors that developed in the marmosets was subjected to consensus primer polymerase chain reaction (PCR) analysis designed to amplify conserved regions of herpesvirus genomes. RESULTS: The mesenteric lymph nodes and intestinal mucosa were consistently infiltrated by principally B lymphocytes, which often obliterated the normal architecture. Of 84 clinically normal marmosets, 52 were seropositive for EBV. The tumor DNA contained previously unreported herpesvirus sequences closely related to but distinct from those of EBV, Herpesvirus papio, and these lymphocryptovirus, a novel gammaherpesvirus. Results of PCR analysis of circulating lymphocytes from EBV-positive, clinically normal marmosets were negative for EBV antibodies and were positive for marmoset lymphocryptovirus; PCR analysis of circulating lymphocytes from EBV-negative marmosets yielded negative results for EBV and this novel marmoset lymphocryptovirus. CONCLUSION: This novel gammaherpesvirus possibly associated with tumor development may have important management implications for captive callitrichids.


Assuntos
Callithrix/virologia , Gammaherpesvirinae/classificação , Infecções por Herpesviridae/veterinária , Transtornos Linfoproliferativos/veterinária , Doenças dos Macacos/virologia , Infecções Tumorais por Vírus/veterinária , Sequência de Aminoácidos , Animais , Anticorpos Antivirais/sangue , Sequência de Bases , Primers do DNA/química , DNA Viral/química , DNA Viral/isolamento & purificação , Surtos de Doenças/veterinária , Reservatórios de Doenças/veterinária , Feminino , Técnica Indireta de Fluorescência para Anticorpo/veterinária , Gammaherpesvirinae/química , Gammaherpesvirinae/genética , Infecções por Herpesviridae/epidemiologia , Infecções por Herpesviridae/virologia , Imuno-Histoquímica , Mucosa Intestinal/patologia , Mucosa Intestinal/virologia , Linfonodos/patologia , Linfonodos/virologia , Transtornos Linfoproliferativos/epidemiologia , Transtornos Linfoproliferativos/virologia , Masculino , Dados de Sequência Molecular , Doenças dos Macacos/epidemiologia , Filogenia , Reação em Cadeia da Polimerase/veterinária , Análise de Sequência de DNA , Estudos Soroepidemiológicos , Infecções Tumorais por Vírus/epidemiologia , Infecções Tumorais por Vírus/virologia , Wisconsin/epidemiologia
4.
Vet Clin North Am Exot Anim Pract ; 2(3): 553-64, vi, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11229043

RESUMO

Diagnostic sampling and interpretation in the ferret are similar to other small mammals in many ways. There are several aspects of clinical pathology and diagnostic procedures, however, that are unique to the ferret. This article is designed to assist the clinician in obtaining and interpreting diagnostic samples for the ferret. Methods for blood and urine collection, bone marrow and organ aspirations, and organ biopsy techniques are discussed.


Assuntos
Coleta de Amostras Sanguíneas/veterinária , Furões/fisiologia , Manejo de Espécimes/veterinária , Doenças das Glândulas Suprarrenais/diagnóstico , Doenças das Glândulas Suprarrenais/veterinária , Animais , Análise Química do Sangue/métodos , Análise Química do Sangue/veterinária , Coleta de Amostras Sanguíneas/métodos , Exame de Medula Óssea/métodos , Exame de Medula Óssea/veterinária , Dirofilariose/diagnóstico , Endoscopia/métodos , Endoscopia/veterinária , Fezes/parasitologia , Feminino , Furões/sangue , Furões/líquido cefalorraquidiano , Furões/urina , Testes Hematológicos/métodos , Testes Hematológicos/veterinária , Insulina/análise , Masculino , Valores de Referência , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/veterinária , Urinálise/métodos , Urinálise/veterinária
5.
Vet Clin North Am Exot Anim Pract ; 1(1): 127-52, vi-vii, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11228720

RESUMO

Emergency and critical care principles are similar for all mammals; however, the physiology and natural behavior of rabbits create an animal that is easily stressed and requires specialized handling techniques. This article reviews diagnostic and therapeutic techniques, nutritional support, and pain management for urgent care of pet rabbits. Common differential diagnoses for emergencies are briefly reviewed by the clinical presentation. A table of drug dosages used for urgent care is provided.


Assuntos
Doenças dos Animais/diagnóstico , Doenças dos Animais/terapia , Serviços Médicos de Emergência , Coelhos , Medicina Veterinária , Criação de Animais Domésticos , Animais , Emergências/veterinária , Estresse Fisiológico
6.
J Am Vet Med Assoc ; 208(2): 227-30, 1996 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-8567377

RESUMO

OBJECTIVE: To compare, in psittacines, the mydriatic effects of several topically applied curariform, sympathomimetic, and parasympatholytic drugs with and without the addition of surface-acting penetrating agents. DESIGN: Prospective, randomized controlled trial. ANIMALS: 10 adult cockatoos (Cacatua sulphurea subspecies), 2 adult African gray parrots (Psittacus erithacus), and 3 adult Blue-fronted Amazon parrots (Amazona aestiva). PROCEDURE: Three curariform drugs (d-tubocurarine, pancuronium, and vecuronium bromide) and 2 autonomic drugs (atropine and phenylephrine hydrochloride) were evaluated. Drugs were tested with and without the addition of a surface-acting penetrating agent, either saponin or benzalkonium chloride. The agent that resulted in the most significant change in pupillary diameter with the fewest systemic side effects in the cockatoos then was evaluated for its effects in the African gray parrots and the Blue-fronted Amazon parrots. During each drug trial, 1 eye was randomly selected to receive the control drug (0.9% NaCl), and the opposite eye was selected to receive the test drug. Each pupil was videotaped 5 (cockatoos only), 15, 30, 45, 60, and 75 minutes after treatment. Pupil diameters were measured by use of a computerized image analysis system. Data for pupil size were analyzed by means of repeated measures ANOVA. RESULTS: Vecuronium without the addition of a surface-acting penetrating agent produced the most consistent and greatest pupillary dilatation in all 3 species with the fewest systemic side effects. CLINICAL IMPLICATIONS: Vecuronium is potentially a clinically useful, topical mydriatic agent for use in avian species. Documented differences in the prevalence of systemic side effects between species suggests that caution should be applied when applying this drug bilaterally.


Assuntos
Midriáticos/farmacologia , Papagaios/fisiologia , Psittaciformes/fisiologia , Pupila/efeitos dos fármacos , Animais , Atropina/farmacologia , Fármacos Neuromusculares não Despolarizantes/farmacologia , Soluções Oftálmicas , Pancurônio/farmacologia , Parassimpatolíticos/farmacologia , Fenilefrina/farmacologia , Estudos Prospectivos , Simpatomiméticos/farmacologia , Tubocurarina/farmacologia , Brometo de Vecurônio/farmacologia , Gravação de Videoteipe
7.
J Child Neurol ; 11(1): 49-53, 1996 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-8745386

RESUMO

We have studied the neurodevelopmental outcome of 104 consecutive unselected children who underwent open-heart surgery from 1987 through 1989. Survivors had formal neurologic and psychometric examinations after 2 years of age. Mean IQ was 90, and 78% had scores above 70. Cerebral palsy occurred in 22%. Deep hypothermia for longer than 45 minutes was associated with IQ less than 85 (P < .001) and later cerebral palsy (P = .02). Those less than 1 month old at operation had a median IQ of 96, and 25% had cerebral palsy. Median IQ for survivors of hypoplastic left heart syndrome was 66, only one had an IQ above 70, and 57% had cerebral palsy. Median IQ for transposition of great arteries was 109, only one was less than 85, and all had normal neurologic examinations. Those between 1 and 6 months of age at operation had a median IQ of 93, with 64% above 85, and 5% had cerebral palsy. Those older than 6 months had a median IQ of 99, with 70% above 85, and 13% had cerebral palsy. For infants less than 1 month old at operation, a strong association existed between outcome, type of lesion, and duration of deep hypothermia (P < .01), although not in all cases. In those older than 1 month at operation, no association existed between outcome and any study variable. Although the majority of children have an uneventful outcome after open-heart surgery, a significant morbidity exists. This is related to several factors, including type of lesion and duration of hypothermia, particularly in neonates; preoperative congenital and acquired lesions; and possible perioperative cerebrovascular events.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Cardiopatias Congênitas/cirurgia , Fatores Etários , Procedimentos Cirúrgicos Cardíacos/mortalidade , Procedimentos Cirúrgicos Cardíacos/psicologia , Ponte Cardiopulmonar , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Exame Neurológico , Psicometria , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
8.
Am J Med Genet ; 60(6): 573-9, 1995 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-8825900

RESUMO

Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best fitting model was a sex-influenced, single gene, Mendelian pattern. Several genetic models were evaluated based on estimates of penetrance, phenocopy rate, and allele frequency derived from our patient population and those of other investigators. No significant linkage was detected between the disease locus and markers spanning this chromosome 20 interval.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Camundongos Mutantes/genética , Adolescente , Adulto , Idoso , Animais , Criança , Pré-Escolar , Feminino , Ligação Genética , Humanos , Masculino , Camundongos , Pessoa de Meia-Idade , Modelos Estatísticos , Linhagem
9.
Am J Med Genet ; 57(3): 403-9, 1995 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-7545868

RESUMO

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.


Assuntos
Anormalidades Múltiplas/genética , Adolescente , Blefaroptose/genética , Criança , Cromossomos Humanos Par 2 , Coloboma/genética , Deficiências do Desenvolvimento/genética , Feminino , Osso Frontal/anormalidades , Giro do Cíngulo/anormalidades , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Órbita/anormalidades , Síndrome
10.
J Med Genet ; 31(1): 68-71, 1994 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-8151643

RESUMO

A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.


Assuntos
Anormalidades Múltiplas/genética , Transtornos da Audição/genética , Ceratose/genética , Adulto , Feminino , Doença da Mama Fibrocística/genética , Dermatoses da Mão/genética , Transtornos da Audição/congênito , Humanos , Lactente , Masculino , Linhagem , Síndrome
11.
Am J Med Genet ; 47(4): 550-5, 1993 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-7504881

RESUMO

Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome.


Assuntos
Anormalidades Múltiplas/genética , Fenda Labial/genética , Fissura Palatina/genética , Contratura/congênito , Deficiências do Desenvolvimento/genética , Displasia Ectodérmica/genética , Feminino , Aconselhamento Genético , Ligação Genética , Humanos , Recém-Nascido , Masculino , Linhagem , Síndrome , Cromossomo X
12.
Am J Med Genet ; 45(5): 614-8, 1993 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-8456835

RESUMO

Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymüller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, mid face hypoplasia, and myopia. In addition, twin B had a parieto occipital encephalocele while twin A had a meningocele at the same location. Twin B has had significant delays in development and hearing loss.


Assuntos
Doenças em Gêmeos/genética , Defeitos do Tubo Neural/genética , Osteocondrodisplasias/genética , Gêmeos Monozigóticos , Pré-Escolar , Encefalocele/complicações , Encefalocele/genética , Humanos , Masculino , Meningocele/complicações , Meningocele/genética , Miopia/complicações , Miopia/genética , Defeitos do Tubo Neural/complicações , Osteocondrodisplasias/complicações , Fenótipo , Síndrome
13.
Am J Med Genet ; 45(3): 285-91, 1993 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-7679543

RESUMO

The physical, radiographic, and pathologic findings in 3 new patients with Marden-Walker syndrome (MWS) are compared with those of previously described children with the syndrome. Over 75% of the children with MWS have blepharophimosis, psychomotor retardation, small mouth, micrognathia, kyphosis/scoliosis, and multiple contractures. Minimal diagnostic criteria have yet to be defined attesting to the broad range of variability and potential genetic heterogeneity in this disorder.


Assuntos
Anormalidades Múltiplas/genética , Blefarofimose/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Pré-Escolar , Contratura/genética , Deficiências do Desenvolvimento/genética , Face/anormalidades , Humanos , Lactente , Masculino , Micrognatismo/genética , Fenótipo , Síndrome
14.
Am J Med Genet ; 44(2): 197-9, 1992 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-1456291

RESUMO

A large frontal bone defect underlying a "V" shaped scar was noted in a newborn male whose mother had an identical "V" shaped scar at the same location in the anterior hairline. Both had hypertelorism and short palpebral fissures. The mother had no radiographic evidence of skull defect and neither mother nor child had other cutaneous or skeletal anomalies. Cranioplasty was performed on the child using the remaining frontal bones with an excellent cosmetic result. Biopsy performed at operation documented scar tissue extending through the dermis and underlain by thickened dura. Mother and child appear to have a variant form of aplasia cutis congenita, an autosomal dominant trait with wide variation in expression.


Assuntos
Anormalidades Múltiplas/genética , Cicatriz/genética , Displasia Ectodérmica/genética , Osso Frontal/anormalidades , Couro Cabeludo/anormalidades , Adulto , Cicatriz/congênito , Feminino , Genes Dominantes , Humanos , Recém-Nascido , Masculino
15.
J Learn Disabil ; 25(3): 179-85, 195, 1992 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-1602225

RESUMO

The possible utility of Wechsler's Deterioration Index (WDI) in analyzing children's Wechsler Intelligence Scale for Children-Revised (WISC-R) results was explored in this study. Clinical records of children with learning disabilities (LD) and children with attention deficit-hyperactivity disorder (ADHD) were reviewed to determine if the WDI predicted the presence or severity of the disorders. The ages of the children ranged from 6 to 14. In two independent samples of children with LD (n = 35 and n = 26), the WDI did not predict LD status or severity. The LD samples were mostly male--85% and 57%, respectively. However, the WDI scores did significantly distinguish children with ADHD (n = 10) from nondisabled children (n = 10). The results were cross-validated on an independent sample of children with ADHD (n = 17) when compared to non-ADHD children (n = 22) who experienced significant behavioral difficulties. The ADHD samples were also mostly male--90% and 89%, respectively. The WDI classified only 59% of the children with ADHD and 86% of the non-ADHD children correctly. It is recommended that the WDI be considered a developmental index rather than a deterioration index in children. It is also recommended that significant WDI elevation (greater than .20) be considered to raise the question of ADHD, rather than simply yielding a diagnosis of ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Escalas de Wechsler/estatística & dados numéricos , Logro , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Inteligência , Deficiências da Aprendizagem/diagnóstico , Deficiências da Aprendizagem/psicologia , Masculino , Psicometria
16.
Clin Genet ; 39(6): 442-50, 1991 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-1863992

RESUMO

We describe a child with multiple anomalies and severe retardation with dup 7pter-p15.1 and del 7q36-qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.


Assuntos
Aberrações Cromossômicas/genética , Deleção Cromossômica , Inversão Cromossômica , Cromossomos Humanos Par 7 , Deficiência Intelectual/genética , Família Multigênica , Criança , Aberrações Cromossômicas/patologia , Aberrações Cromossômicas/fisiopatologia , Transtornos Cromossômicos , Feminino , Humanos , Deficiência Intelectual/patologia , Deficiência Intelectual/fisiopatologia , Linhagem
17.
Am J Med Genet ; 37(3): 392-400, 1990 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-2260571

RESUMO

Five matings to a dir ins (6;2)(q16;q31q33) carrier have produced a high frequency (42%) of offspring with unbalanced karyotypes. Five children have the derivative chromosome 2 resulting in del (2)(q31q33) and one individual received the derivative chromosome 6 leading to dup (2)(q31q33). The findings associated with the deletion include pre- and postnatal growth retardation, developmental delay, minor facial anomalies, seizures, complex structural heart defects, and limb deficiency. Autopsy of one individual showed complex brain malformations including hydrocephalus secondary to obstruction of the foramina of Monro, extensive heterotopias and polymicrogyria, and an unusual form of total anomalous pulmonary venous return. We compare the findings in these children to those of previously reported cases and construct an overview of the range of anomalies. Apparently, no other individual with dup (2)(q31q33) has been described. We compare the physical peculiarities of our patient with those of individuals with duplications of overlapping regions of 2q.


Assuntos
Anormalidades Múltiplas/genética , Encéfalo/anormalidades , Aberrações Cromossômicas , Cromossomos Humanos Par 2 , Cardiopatias Congênitas/genética , Deformidades Congênitas dos Membros , Criança , Pré-Escolar , Deleção Cromossômica , Feminino , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Linhagem , Convulsões
18.
Am J Med Genet ; 33(2): 176-9, 1989 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-2669480

RESUMO

Sibs with virtually identical humero-radial synostosis (HRS) are presented and compared with 17 previously reported cases from the literature of recessively transmitted HRS. The range of anomalies described includes (in addition to humero-radial synostosis) ulnar hypoplasia, patellar hypoplasia, and chronic glomerulo-nephritis.


Assuntos
Anormalidades Múltiplas/genética , Úmero/anormalidades , Rádio (Anatomia)/anormalidades , Sinostose/genética , Ulna/anormalidades , Anormalidades Múltiplas/patologia , Pré-Escolar , Feminino , Genes Recessivos , Humanos , Úmero/diagnóstico por imagem , Lactente , Masculino , Linhagem , Radiografia , Rádio (Anatomia)/diagnóstico por imagem , Sinostose/diagnóstico por imagem , Ulna/diagnóstico por imagem
19.
Am J Med Genet ; 33(1): 108-12, 1989 May.
Artigo em Inglês | MEDLINE | ID: mdl-2665488

RESUMO

Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 3 , Doenças do Desenvolvimento Ósseo/genética , Mapeamento Cromossômico , Ossos Faciais/anormalidades , Feminino , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Síndrome
20.
Am J Med Genet ; 32(3): 359-63, 1989 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2658585

RESUMO

We report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion. Nine cases of deletions involving other segments of chromosome 2q are reviewed. Common manifestations of the 2 groups include small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.


Assuntos
Anormalidades Múltiplas/patologia , Deleção Cromossômica , Cromossomos Humanos Par 2 , Anormalidades Múltiplas/genética , Criança , Bandeamento Cromossômico , Humanos , Lactente , Cariotipagem , Masculino , Fenótipo
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