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 report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. Skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a polyaetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.
Asunto(s)
Aberraciones Cromosómicas/diagnóstico , Enfermedad de Darier/genética , Enfermedad de Darier/patología , Eritema/genética , Eritema/patología , Hiperpigmentación/genética , Hiperpigmentación/patología , Adolescente , Trastornos de los Cromosomas , Enfermedad de Darier/complicaciones , Complicaciones de la Diabetes , Diabetes Mellitus/diagnóstico , Eritema/complicaciones , Humanos , Hiperpigmentación/complicaciones , Masculino , Pronóstico , SíndromeRESUMEN
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
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.