ABSTRACT
Klinefelter syndrome (KS) is one of the most frequent genetic abnormalities and the leading genetic cause of nonobstructive azoospermia. The breeding and study of KS mouse models are essential to advancing our knowledge of the underlying pathological mechanism. Karyotyping and fluorescence in situ hybridization are reliable methods for identifying chromosomal contents. However, technical issues associated with these methods can decrease the efficiency of breeding KS mouse models and limit studies that require rapid identification of target mice. To overcome these limitations, we developed three polymerase chain reaction-based assays to measure specific genetic information, including presence or absence of the sex determining region of chromosome Y (Sry), copy number of amelogenin, X-linked (Amelx), and inactive X specific transcripts (Xist) levels. Through a combined analysis of the assay results, we can infer the karyotype of target mice. We confirmed the utility of our assays with the successful generation of KS mouse models. Our assays are rapid, inexpensive, high capacity, easy to perform, and only require small sample amounts. Therefore, they facilitate the breeding and study of KS mouse models and help advance our knowledge of the pathological mechanism underlying KS.
Subject(s)
Animals , Mice , Azoospermia , In Situ Hybridization, Fluorescence , Karyotyping , Klinefelter Syndrome/genetics , Polymerase Chain ReactionABSTRACT
Klinefelter syndrome (47, XXY in most cases) is a frequently underdiagnosed chromosomal anomaly associated with multiple comorbidities in adult life. Patients with Klinefelter syndrome have a higher risk of cancer. Specifically, these patients have a higher risk for mediastinal germ cell tumors. It is estimated that 8% of male patients with mediastinal tumors have Klinefelter. We report a 42-years-old male who suffered recurrent respiratory infections. During the study, a mediastinal mass was found, whose pathological study disclosed a type B thymoma. The patient had a history of infertility, high stature, gynecomastia, obesity with gynecoid distribution of body fat and testicular atrophy. A karyotype was requested (47, XXY), confirming the diagnosis of Klinefelter syndrome.
Subject(s)
Humans , Male , Adult , Thymoma/pathology , Thymus Neoplasms/pathology , Klinefelter Syndrome/pathology , Thymoma/diagnostic imaging , Thymus Neoplasms/diagnosis , Radiography, Thoracic , Tomography, X-Ray Computed , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/genetics , Mediastinal Neoplasms/diagnosis , Mediastinal Neoplasms/pathologyABSTRACT
La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.
Subject(s)
Humans , Male , Infant, Newborn , Trisomy 18 Syndrome/genetics , Klinefelter Syndrome/genetics , Aneuploidy , Trisomy 18 Syndrome/complications , Klinefelter Syndrome/complicationsABSTRACT
El cariotipo 49 XXXXY, es una forma rara de polisomía, considerada una variante del Síndrome de Klinefelter, descripto en el año 1960, siendo muy escasa la información publicada en la literatura científica en el área de la odontología. Algunas de las características fenotípicas predominantes en este síndrome son: rasgos faciales dismórficos, microcefalia, clinodactilia, retardo mental, hipogonadismo y naomaláis esqueletales, siendo la sinostosis radiolunar la más característica. En el 100 por ciento de los casos se ha descripto retraso motor y del lenguaje y en el 50 a 100 por ciento se pueden observa paladar fisurado, malformaciones genitourinarias, hernia inguinal y defectos óseos. Uno de los aspectos bucales relevantes de los pacientes con este síndrome es la presencia de taurodoncia. El propósito de este trabajo es describir las características bucales, las anomalías dentales y su abordaje clínico en forma ambulatoria, en un paciente de 6 años de edad con síndrome de 49 XXXXY
Subject(s)
Humans , Male , Child , Tooth Abnormalities/etiology , Oral Manifestations , Phenotype , Klinefelter Syndrome/genetics , Klinefelter Syndrome/pathology , Argentina , Dental Care for Children , Dental Care for Chronically Ill , Dental Restoration, Permanent/methods , Space Maintenance, Orthodontic , Tooth ExtractionABSTRACT
Introduction Auditory neuropathy/dyssynchrony (AN/AD) comprises a spectrum of pathology affecting the auditory pathways anywhere from the inner hair cells to the brainstem. It is characterized by an absent or atypical auditory brainstem response (ABR) with preservation of the cochlear microphonics and/or otoacoustic emissions (OAEs). Objective Retrospective analysis of patients with AN/AD. Methods Fifteen patients with AN/AD were included in this study and their records were retrospectively investigated. Results Possible etiology of AN/AD was neonatal hyperbilirubinemia in three patients, family history of hearing loss in three patients, consanguineous marriage in two patients, head trauma in two patients, mental motor retardation in one patient, cerebrovascular disease in one patient, and there was no apparent cause in three patients. Conclusion Otolaryngologists should keep in mind the diagnosis of AN/AD especially in patients complaining of difficulty in hearing and speech and audiological evidence of disassociation between pure tone and speech audiometry. ABR and OAE testing is recommended in these patients for AN/AD diagnosis. .
Subject(s)
Female , Humans , Male , Brain/metabolism , Epigenesis, Genetic , Klinefelter Syndrome/genetics , Transcriptome , Alu Elements , Case-Control Studies , Cerebellum/metabolism , DNA Methylation , Klinefelter Syndrome/complications , Klinefelter Syndrome/metabolism , Long Interspersed Nucleotide Elements , Prefrontal Cortex/metabolism , Schizophrenia/complicationsABSTRACT
CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births. .
CONTEXTO: Lesões císticas intratorácicas são diagnosticadas em ampla variedade de faixas etárias, e o uso aumentado dos estudos de imagem pré-natal tem permitido a detecção desses defeitos ainda intraútero. RELATO DO CASO: Uma gestante de 17 anos que estava em sua segunda gravidez, com 23 semanas de gestação, apresentava ultrassom com evidência de imagem cística anecoica no hemitórax esquerdo fet al. O ultrassom morfológico realizado no hospital verificou que esta media 3,7 cm x 2,1 cm x 1,6 cm. Evidenciou-se também a presença de polidrâmnio. Neste momento, levantou-se a hipótese de malformação adenomatoide cística. A ecocardiografia fet al mostrou apenas coração desviado para a direita. A ressonância magnética fet al revelou imagem compatível com hérnia diafragmática à esquerda, contendo estômago e, pelo menos, primeira e segunda partes do duodeno, lobo esquerdo do fígado, baço, segmentos de intestino delgado e porções do cólon. O estômago mostrava-se muito distendido e o coração, deslocado para a direita. Havia redução importante do volume do pulmão esquerdo. O cariótipo fet al mostrou constituição cromossômica 47,XXY, compatível com a síndrome de Klinefelter. Em nossa revisão da literatura, encontramos apenas um caso de associação entre síndrome de Klinefelter e hérnia diafragmática. CONCLUSÃO: Acreditamos que a associação observada neste caso foi puramente uma coincidência, uma vez que ambas as condições são relativamente comuns. A chance de os dois eventos ocorrerem simultaneamente é estimada em 1 em 1,5 milhões de nascimentos. .
Subject(s)
Adolescent , Female , Humans , Pregnancy , Hernias, Diaphragmatic, Congenital , Klinefelter Syndrome , Karyotyping , Klinefelter Syndrome/genetics , Magnetic Resonance Imaging , Pregnancy Trimester, Second , Ultrasonography, PrenatalABSTRACT
Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.
Los cromosomas marcadores son muy raros en los pacientes de Klinefelter, y los hallazgos fenotípicos se relacionan con la región cromosomática afectada. Los efectos fenotípicos de los cromosomas marcadores supernumerarios pequeños (sSMC) van desde el retraso mental y las malformaciones múltiples hasta la ausencia total de efectos (es decir, un fenotipo normal). Este amplio espectro de fenotipos se debe al origen, estructura y contenido del gen del cromosoma marcador. El primer caso de síntoma Klinefelter con sSMC 9 fue publicado por Liehr et al en 2005. El caso presente fue remitido para análisis cromosomático debido a rasgos dismórficos, retraso del habla, y retardo mental ligero. El análisis citogenético convencional reveló el cariotipo 47 XXY en 17 metafases y el cariotipo marcador 48 XXY+ en ocho metafases. El análisis mediante hibridación fluorescente in situ (FISH) para identificar el cromosoma marcador se realizó usando la sonda LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe). Un mosaicismo de trisomía 9 parcial fue confirmado en este paciente. Hasta donde sabemos, éste es el segundo caso de síndrome de Klinefelter con un cromosoma marcador supernumerario pequeño derivado del cromosoma 9.
Subject(s)
Child, Preschool , Humans , Male , Chromosome Disorders/genetics , Genetic Markers/genetics , Klinefelter Syndrome/genetics , Trisomy/genetics , Uniparental Disomy/genetics , Chromosome Disorders/diagnosis , Chromosomes, Human, Pair 9/genetics , In Situ Hybridization, Fluorescence , Karyotyping , Mosaicism , PhenotypeABSTRACT
OBJETIVO: Identificar dados clínicos e laboratoriais que diferenciam os casos com síndrome de Klinefelter de acordo com a faixa etária. CASUÍSTICA E MÉTODOS: Foram incluídos todos os casos de hipogonadismo, ginecomastia e/ou infertilidade avaliados em hospital universitário cujo cariótipo foi realizado entre janeiro de 1989 e dezembro de 2011, totalizando 105 pacientes. Foram avaliados: idade na primeira consulta, relação entre envergadura e altura, pilificação pubiana, ginecomastia, tamanho testicular, hormônio luteinizante (LH), hormônio folículo-estimulante (FSH), testosterona e espermograma. RESULTADOS: Foram diagnosticados três casos com síndrome de Klinefelter (SK+) e 72 sem a síndrome (SK-). Dos casos com síndrome de Klinefelter, apenas sete (21,2%) foram diagnosticados antes dos 20 anos e dois (6,1%) antes dos 10 anos de idade. A idade na primeira consulta (em anos) foi semelhante nos dois grupos (SK+ = 31,3±12,9 e SK- = 27,6±12,1), o mesmo ocorrendo com a relação entre envergadura e altura e a presença de ginecomastia. No entanto, a pilificação pubiana foi menor no grupo SK+, o mesmo ocorrendo com a média do volume bitesticular e a testosterona, enquanto que o LH e o FSH foram mais elevados neste grupo, o mesmo ocorrendo com a frequência de azoospermia. CONCLUSÕES: A síndrome de Klinefelter ainda é pouco e tardiamente diagnosticada em nosso meio, sendo os dados de tamanho testicular, LH, FSH, testosterona e presença de azoospermia no espermograma os mais importantes para o seu diagnóstico, principalmente na puberdade e na vida adulta.
OBJECTIVE: To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS: The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing hormone (LH), follicle stimulating hormone (FSH), total testosterone (T), and spermiogram. RESULTS: During the study period, 33 patients were diagnosed with Klinefelter syndrome (KS+) and 72 were not (KS-). Out of all KS cases, only seven (21.2%) were diagnosed before 20 years old and two (6.1%) before 10 years old. Age at first consultation (in years) was similar in both groups (KS+ = 31.3±12.9 and KS- = 27.6±12.1), as were ratio of arm span to height and frequency of gynecomastia. However, in KS+ patients, pubic hair was less developed, testicular volume was smaller and testosterone levels were lower, while LH and FSH levels and frequency of azoospermia were higher. CONCLUSIONS: Klinefelter syndrome is both an under and late diagnosed condition. The most important data for diagnosis are testicular volume, hormone levels and presence of azoospermia in spermiogram, especially in puberty and adult life.
Subject(s)
Adolescent , Adult , Aged , Child , Humans , Male , Middle Aged , Young Adult , Klinefelter Syndrome/diagnosis , Age of Onset , Azoospermia/diagnosis , Chi-Square Distribution , Delayed Diagnosis , Gynecomastia/diagnosis , Karyotyping , Klinefelter Syndrome/genetics , Puberty, Delayed , Retrospective Studies , Statistics, NonparametricABSTRACT
Extraordinary advances have been achieved in the field of male infertility in the last decades. There are new concepts in sperm physiology and several modern tools for the assessment of spermatogenesis kinetics in vivo. New tests using molecular biology and DNA damage assays allow the clinician to correctly diagnose men so far classified as having idiopathic male infertility. In the field of treatment, microsurgery has increased success rates either for reconstruction of the reproductive tract or the retrieval of spermatozoa for assisted conception. Emerging evidence suggests that life-style and environmental conditions are of utmost importance in male fertility and subfertility. This review discusses several concepts that have changed over the last years, such as the duration of the spermatogenic cycle in humans, Y-chromosome infertility, the reproductive potential of non-mosaic Klinefelter syndrome men, the impact of paternal age and sperm DNA in male infertility, the role of antioxidants in the treatment of infertile men, the predictive factors and techniques for sperm retrieval in non-obstructive azoospermia, and the microsurgical treatment of clinical varicoceles. Whenever possible, levels of evidence are provided as suggested by the Oxford Center of Evidence-based Medicine.
Subject(s)
Humans , Male , Infertility, Male/physiopathology , Azoospermia/genetics , Chromosomes, Human, Y/genetics , Infertility, Male/genetics , Klinefelter Syndrome/genetics , Oxidative Stress , Paternal Age , Sperm Retrieval , Varicocele/surgeryABSTRACT
Klinefelter’s syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter’s variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.
Subject(s)
Aneuploidy , Child , Developmental Disabilities/complications , Humans , In Situ Hybridization, Fluorescence , Klinefelter Syndrome/complications , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/genetics , MaleABSTRACT
A síndrome de Prader-Willi é afecção genética de deficiência mental associada a hipogonadismo hipogonadotrófico, hiperfagia e obesidade. Descrevemos o caso de menino de 4 anos de idade, filho de casal consangüíneo, apresentando três condições clínicas não relacionadas: síndrome de Prader-Willi, cariótipo 47,XXY (compatível com síndrome de Klinefelter) e craniossinostose coronal. Ao nosso conhecimento, não foi relatado caso semelhante previamente na literatura.
Subject(s)
Child, Preschool , Humans , Male , Craniosynostoses/genetics , Klinefelter Syndrome/genetics , Prader-Willi Syndrome/genetics , Craniosynostoses/complications , Klinefelter Syndrome/complications , Prader-Willi Syndrome/complicationsABSTRACT
Informamos de un caso atípico de síndrome de Klinefelter, detectado al nacimiento por la presencia de múltiples signos menores e hidrocefalia, los que motivaron el estudio cromosómico. A los 8 años, el niño presenta un severo deterioro neurológico, retardo mental y convulsiones. Tanto los hallazgos neonatales como el aspecto neurológico de nuestro paciente son infrecuentes en el síndrome de Klinefelter. Se discuten las posibles causas determinantes de la variabilidad fenotípica en este síndrome.
Subject(s)
Humans , Male , Infant, Newborn , Infant , Child, Preschool , Child , Genetic Variation , Nervous System Malformations/diagnosis , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/genetics , Dental Enamel Hypoplasia , Infertility, Male/genetics , Intellectual Disability , Mosaicism/diagnosis , Obesity , Seizures/drug therapy , Sex Chromosome AberrationsABSTRACT
Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.
Subject(s)
Humans , Infant , Male , Karyotyping , Klinefelter Syndrome/genetics , Klinefelter Syndrome/complications , Retroperitoneal Neoplasms/pathology , Retroperitoneal Neoplasms/complications , Teratoma/pathology , Teratoma/etiologyABSTRACT
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2.4%) were similar to those reported in other countries. However, it was different in Turner syndrome (45, X 28.1%, mosaic 50.8%, 46, X, del (Xq) 4.4%, 46, X, i (Xq) 16.7%), in which proportions of mosaics and isochromosome, 46, X, i(Xq), were higher than those reported in other countries. In structural chromosome aberrations of autosome, translocation was the most common (43.6%), and duplication (21.3%), deletion (14.4%), marker chromosome (7.9%) and ring chromosome (4.0%) followed in order of frequency. Rates of several normal variant karyotypes were also described. Inversion of chromosome 9 was observed in 1.7% of total referred cases.
Subject(s)
Female , Humans , Infant, Newborn , Male , Adolescent , Chromosomes, Human, Pair 6 , Down Syndrome/genetics , Down Syndrome/epidemiology , Family Health , Gene Deletion , Chromosome Inversion , Karyotyping , Klinefelter Syndrome/genetics , Klinefelter Syndrome/epidemiology , Korea/epidemiology , Mosaicism , Prevalence , Translocation, Genetic , Turner Syndrome/genetics , Turner Syndrome/epidemiology , X Chromosome , Y ChromosomeABSTRACT
El hipogonadismo masculino representa una diminución de la función testicular con una baja en la producción de testosterona e infertilidad. Puede ser ocasionado por un problema intrínseco de los testículos (hipogonadismo primario), una falla del eje hipotálamo-hipofisiario (hipogonadismo secundario) o una respuesta disminuída o ausente de los órganos blanco a los andrógenos (resistencia androgénica). Los síntomas del hipogonadismo incluyen la caída del vello corporal, disminución de la función sexual y cambios de la voz. Dependiendo de la edad de aparición puede presentarse atrofia testicular, hábito eunocoide y ginecomastia. A largo plazo puede presentarse osteoporosis. El diagnóstico se sospecha clínicamente y se establece con la demostración de concentraciones bajas de testosterona sanguínea. Si existe un aumento concomitante de las gonadotropinas circulantes, Hormona Folículo Estimulante y Hormona Luteinizante, se habla de un hipogonadismo primario; pero si ambas están disminuidas el hipogonadismo es secundario. Existen diferentes formas de testosterona para el tratamiento de los pacientes con hipogonadismo; la más común, es la testosterona de depósito (enantato o cipionato) la cual se inyecta por vía intramuscular. La terapia actual consiste en la administración de testosterona por vía transdérmica, no escrotal, obteniéndose una concentración normal de testosterona con preservación del ritmo cardíaco
Subject(s)
Humans , Male , Hypogonadism/complications , Hypogonadism/diagnosis , Hypogonadism/drug therapy , Hypogonadism/epidemiology , Hypogonadism/etiology , Hypogonadism/pathology , Hypogonadism/physiopathology , Hypogonadism/rehabilitation , Hypogonadism/therapy , Klinefelter Syndrome/complications , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/epidemiology , Klinefelter Syndrome/etiology , Klinefelter Syndrome/physiopathology , Klinefelter Syndrome/genetics , Klinefelter Syndrome/rehabilitationABSTRACT
Se revisan los estudios cromosómicos realizados en el Hospital San Juan de Dios entre abril y diciembre de 1995. De total de 58 exámenes, el mayor porcentaje de alteraciones (57 por ciento) correspondió a trisomía 21 libre (síndrome de Down); en menor proporción se encontraron aneuploidia de cromosomas sexuales (síndrome de Klinefelter) 9,5 por ciento y síndrome de Turner (4,8 por ciento). Otras alteraciones correspondieron a trisomía 18, trisomía 13, trisomía 22 parcial, deleción 5p, deleción 13q en un paciente con retinobalstoma y translocación 9,22 (cromosoma Philadelfia)
Subject(s)
Chromosome Banding/methods , Chromosome Aberrations/genetics , Culture Media , Karyotyping , Bone Marrow/cytology , Down Syndrome/genetics , Klinefelter Syndrome/genetics , Turner Syndrome/geneticsABSTRACT
A 46,XY/47,XXY mosaic has been observed in a male aged 30, with hypogonadism bilateral gynecomastia, small testes and aspermatogenesis. The banding techniques and computer analysis employde in this work. 200 metaphase plates were scanned and printed by Leitz Miamed Metaphase Finding System. Sex chromatin preparations were made from buccal smears and peripheral blood neutrophils. The chromosomes were classified according to the International System for Human Cytogenetic Nomenclature
Subject(s)
Humans , Male , Adult , Klinefelter Syndrome/diagnosis , Karyotyping , Mosaicism , Nondisjunction, Genetic , Phenotype , Sex Chromatin , Klinefelter Syndrome/geneticsABSTRACT
Foram estudados citogeneticamente o sarcoma dos pulmöes e os sintomas clínicos da síndrome de "Klinefelter's" em um homem branco de 20 anos de idade. Este paciente mostrou linhas múltiplas de células com constituiçäo cromossômica 49,XXYYY, 48,XXYY, 47XXY e 46,XY em sua primeira amostra de sangue. Na segunda amostra recebida um ano depois ele mostrou somente 49,XXYYY e 48,XXYY. Juntamente com este caso estudo, se apresenta uma revisäo da literatura mostrando anomalias constitucionais para certos neoplasmas humanos