RESUMEN
Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome.
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 22/genética , Anomalías Craneofaciales/complicaciones , Anomalías Craneofaciales/genética , Criptorquidismo/complicaciones , Criptorquidismo/genética , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Hipotonía Muscular/complicaciones , Hipotonía Muscular/genética , Niño , Análisis Citogenético , Vesícula Biliar/anomalías , Humanos , Hígado/anomalías , Masculino , Páncreas/anomalías , Síndrome , Translocación GenéticaAsunto(s)
Anomalías Múltiples/genética , Enfermedades del Desarrollo Óseo/genética , Cromosomas Humanos Par 8/genética , Anomalías Craneofaciales/genética , Mosaicismo , Cromosomas en Anillo , Anomalías Múltiples/diagnóstico , Adolescente , Enfermedades del Desarrollo Óseo/diagnóstico , Bandeo Cromosómico , Anomalías Craneofaciales/diagnóstico , Análisis Mutacional de ADN , Sondas de ADN , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Diagnóstico Diferencial , Facies , Expresión Génica , Marcadores Genéticos/genética , Genotipo , Humanos , Hibridación Fluorescente in Situ , Masculino , FenotipoRESUMEN
We report a five-year-old girl who has been clinically diagnosed as Joubert syndrome. Her cytogenetic analysis showed 46,XX,der(2)add(2q37) karyotype. Cytogenetic analysis of her mother and maternal grandmother revealed a karyogram designated as 46,X,t (X;2)(p11.2;q37). The proband's derivative chromosome was further confirmed to be a translocation chromosome 2 carrying segments from chromosome X, which originated from a segregation event of the maternal grandmother's balanced translocation passed on as a balanced translocation to the proband's mother either. So far, a number of candidate genes including EN1 on 2q were analyzed for Joubert syndrome. Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband.
Asunto(s)
Cromosomas Humanos Par 2/genética , Translocación Genética , Trisomía/genética , Anomalías Múltiples , Ataxia/complicaciones , Estatura , Encéfalo/anomalías , Preescolar , Cromosomas Humanos X , Cara/anomalías , Femenino , Humanos , Hibridación Fluorescente in Situ/métodos , Discapacidad Intelectual/complicaciones , Cariotipificación , Hipotonía Muscular/complicaciones , Trastornos Respiratorios/complicaciones , Cráneo/anomalías , SíndromeRESUMEN
Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB.
Asunto(s)
Alquilantes/uso terapéutico , Rotura Cromosómica , Compuestos Epoxi , Anemia de Fanconi/diagnóstico , Mecloretamina , Diagnóstico Diferencial , Anemia de Fanconi/genética , Humanos , Linfocitos/efectos de los fármacosRESUMEN
We report an eleven years old boy and his fourteen years old brother who both have trisomy 9p syndrome. Their cytogenetic analysis using GTL-banding showed 46,XY,der(22)add(22)(p11) karyotype. Cytogenetic analysis of their mother and sister revealed a karyogram designated as 46,XX,t(9;22) (9pter-->9p12::22p11-->22qter). With the help of FISH technique, the derivative chromosome in the proband was further confirmed to be a translocation chromosome 22 carrying the aforementioned segments from chromosome 9 which originated from a segregation event of a mother's balanced translocation. Regarding clinical aspects of our cases, both showed similar findings of 9p trisomy syndrome but low frontal hairline, circular placement of the hair around the face and scarce, inverted eyebrows, findings not previously mentioned in the literature. We conclude that these new clinical findings could be used in the clinical diagnosis of the 9p trisomy syndrome along with the other well-documented symptoms.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 9 , Hermanos , Trisomía , Adolescente , Niño , Humanos , Cariotipificación , Masculino , Linaje , Síndrome , Translocación GenéticaRESUMEN
beta-Thalassemia, an inherited blood disorder, mainly affects people from the Mediterranean region. This life-threatening anemia is so severe that regular blood transfusions and iron-chelating therapy is obligatory throughout life. Commonly occurring complications, especially in adult patients, are osteopenia and osteoporosis. Osteoporotic fractures are strongly associated with bone density, which is under polygenic control. Type I collagen, which is encoded by the COLIA1 and COLIA2 genes, is the major protein in the bone. A G-->T polymorphism in the regulatory region of the COLIA1 gene at a recognition site for transcription factor Sp1 has been strongly associated with osteoporotic fractures. In this study, the G-->T polymorphism is screened in 42 beta-thalassemia major and 10 beta-thalassemia intermedia patients. 64.3% of the beta-thalassemia patients were heterozygotes for G/T (Ss) polymorphism and 35.7% were homozygous for G/G (SS), 60% of the beta-thalassemia intermedia patients were heterozygous (Ss) and 40% were homozygous (ss). The number of heterozygotes in the beta-thalassemia major group was significantly higher, compared to the control group (F = 13.615, P = 0.001). The number of heterozygotes in beta-thalassemia intermedia group was also significantly higher, compared to the control group (F = 5.158, P = 0.029). Patients who are G/T heterozygotes (Ss) at the polymorphic Sp1 site have a lower bone mineral density than G/G homozygotes (SS) (P = 0.01).
Asunto(s)
Densidad Ósea/genética , Colágeno Tipo I/genética , Polimorfismo Genético , Talasemia/genética , Talasemia beta/genética , Adulto , Secuencia de Bases , Sitios de Unión/genética , Enfermedades Óseas Metabólicas/etiología , Enfermedades Óseas Metabólicas/genética , Enfermedades Óseas Metabólicas/metabolismo , Cadena alfa 1 del Colágeno Tipo I , ADN/genética , ADN/metabolismo , Femenino , Humanos , Masculino , Osteoporosis/etiología , Osteoporosis/genética , Osteoporosis/metabolismo , Factor de Transcripción Sp1/metabolismo , Talasemia/complicaciones , Talasemia/metabolismo , Turquía , Talasemia beta/complicaciones , Talasemia beta/metabolismoRESUMEN
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 10 , Cromosomas Humanos Par 20 , Translocación Genética , Trisomía , Adulto , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Pintura Cromosómica , Análisis Citogenético , Femenino , Humanos , Recién Nacido , Cariotipificación , Masculino , LinajeRESUMEN
We report two siblings from non consanguineous parents with a similar MCA/MR syndrome: Pre- and postnatal growth retardation, microcephaly, mental retardation, iris colobomata, facial dysmorphism, spasticity, dilated ventricles and abnormal immunoglobulin levels. Review of published reports and the use of the London Dysmorphology Database suggests that these siblings may present a new syndrome.
Asunto(s)
Anomalías Múltiples/genética , Anomalías Craneofaciales/genética , Cara/anomalías , Trastornos del Crecimiento/genética , Ventrículos Cardíacos/anomalías , Discapacidad Intelectual/genética , Enfermedades del Iris/genética , Espasticidad Muscular/genética , Preescolar , Femenino , Humanos , Lactante , Microcefalia/genética , Núcleo Familiar , SíndromeRESUMEN
The expression of common fragile sites (c-fra) and frequency of chromosomal aberrations were studied in peripheral lymphocytes of 50 healthy Turkish individuals (26 males and 24 females from 1 to 87 years of age) after induction with aphidicolin (APC), 5'-fluorodeoxyuridine (FUdR), and caffeine. A correlation was seen between age and the frequency of chromosomal aberrations in APC and caffeine treated cultures, but there were no significant differences in the frequencies of chromosomal aberrations between males and females in any of the treatments. The mean frequency of aberrations induced by FUdR was significantly higher than that induced by APC and caffeine. A chromosome aberration is defined as a fragile site when present in 1% of the cells analyzed from each culture and in at least 50% of the individuals studied. Using these criteria, 12 c-fra were observed in the three treatments: 1p21, 1q21, 2p11-q11, 3p14, 4q31, 6q26, 7q22, 7q32, 8q24, 11q23, 16q23, and Xp22. Sites 3p14, 16q23, and Xp22 were the most frequently observed c-fra, with only the frequency of Xp22 being significantly increased in females in APC treated cultures. The results of these studies are important as a base against which the effects of other clastogenic and environmental agents, as well as genetic background, can be compared.
Asunto(s)
Afidicolina/farmacología , Cafeína/farmacología , Fragilidad Cromosómica/genética , Floxuridina/farmacología , Linfocitos/efectos de los fármacos , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Células Cultivadas , Niño , Preescolar , Aberraciones Cromosómicas , Sitios Frágiles del Cromosoma , Femenino , Frecuencia de los Genes , Humanos , Lactante , Masculino , Persona de Mediana Edad , Factores Sexuales , TurquíaRESUMEN
A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion".
Asunto(s)
Aberraciones Cromosómicas , Inversión Cromosómica , Cromosomas Humanos Par 12 , Síndrome de Klinefelter/genética , Adulto , Células Cultivadas , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Cromosoma XRESUMEN
In this report we present three affected females of the same family in three generations. The cases have features of focal dermal hypoplasia (Goltz syndrome). One of the three affected females is the index case and the others are her mother and her grandmother. We performed skin biopsies on them. According to histopathological examinations skin lesions were compatible with Goltz syndrome. These cases exhibited focal dermal hypoplasia (FDH) manifestations including skin, dental and skeletal abnormalities. The affected females were seen in three generations of the same family which pointed to its X-linked dominance.
Asunto(s)
Hipoplasia Dérmica Focal/genética , Biopsia , Preescolar , Femenino , Hipoplasia Dérmica Focal/patología , Ligamiento Genético , Humanos , Linaje , Cromosoma XRESUMEN
We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.
Asunto(s)
Anoftalmos/genética , Síndrome de Waardenburg/genética , Anoftalmos/diagnóstico por imagen , Anoftalmos/fisiopatología , Niño , Preescolar , Femenino , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Órbita/anomalías , Órbita/diagnóstico por imagen , Linaje , Radiografía , Tomógrafos Computarizados por Rayos X , Síndrome de Waardenburg/diagnóstico por imagen , Síndrome de Waardenburg/fisiopatologíaRESUMEN
In vivo effects of methyl nitrosourea (MNU) on rat liver glutathione, glutathione S transferase and glutathione reductase have been studied. MNU was injected (20 mg per kg i.r.) weekly for 10 weeks. The animals were killed by decapitation 6 months later, livers were removed, homogenized and the enzymes were studied. Twenty-five animals were treated with MNU. Physiological salt solution was given to ten control animals. It was shown that the cytotoxic effects of MNU cause a decrease of glutathione levels. There was no difference in activity of glutathione reductase in the MNU treated group when compared to control, but glutathione S-transferase activity of the MNU treated group was found to be increased. Glutathione protects the cells against alkylating agents, which may cause cell damage due to depletion of glutathione levels. Increased levels of glutathione S-transferase may be a reaction of the organism to the alkylating agents. Because of depletion of glutathione levels, glutathione reductase levels may be unaffected.
Asunto(s)
Carcinógenos/farmacología , Glutatión/metabolismo , Hígado/enzimología , Metilnitrosourea/farmacología , Animales , Reparación del ADN/efectos de los fármacos , Glutatión Reductasa/metabolismo , Glutatión Transferasa/metabolismo , Hígado/efectos de los fármacos , Masculino , Ratas , Ratas WistarRESUMEN
Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.
Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Marcadores Genéticos , Cromosoma X , Niño , Sondas de ADN , ADN Satélite , Cara/anomalías , Femenino , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Cariotipificación , Trastornos del Habla/genéticaRESUMEN
A 46,X,t(X;X) (qter-->p22;;p22-->qter) karyotype was found in the chromosome analysis of a 22 years old female patient with secondary amenorrhea. Further analysis with fluorescence in situ hybridization indicated that the marker chromosome had one active and one inactive centromere originating from the X chromosome. RBG-banding showed that the derivative X chromosome was preferentially inactivated in cultured lymphocytes.