Asunto(s)
Segregación Cromosómica/genética , Cromosomas Humanos Par 17/genética , Cromosomas Humanos Par 21/genética , Síndrome de Down/genética , Translocación Genética/genética , Análisis Citogenético , Femenino , Tamización de Portadores Genéticos , Asesoramiento Genético , Humanos , Lactante , Cariotipificación , Diagnóstico PrenatalRESUMEN
We describe a one-year old girl, with a de novo segmental aneusomy due to the subtelomeric deletion of the long arm of chromosome 9, determined via fluorescence in situ hybridization technique. Common clinical findings of the 9q subtelomeric deletion syndrome are developmental delay, hypotonia, microcephaly and dysmorphic facial features especially including midface hypoplasia and low set ears. Sensorineural deafness, as a rare condition of the syndrome is also announced. Presented case with sensorineural deafness has most of the common clinical findings of the syndrome, except brachycephaly, downslanting palpebral fissures, synophrys, epicanthus and low set ears, and has also additional findings like microtia, asymmetric and simple ears, long curly eyelashes and fetal finger pads which are not reported previously.
Asunto(s)
Anomalías Múltiples/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Par 9/genética , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/diagnóstico , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Anomalías Múltiples/genética , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Microtia Congénita , Sordera/diagnóstico , Sordera/genética , Discapacidades del Desarrollo/genética , Oído/anomalías , Facies , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Hibridación Fluorescente in Situ/métodos , LactanteRESUMEN
Partial trisomy 1q including different segments of the long arm is a rare cytogenetic anomaly. Especially the cases with mosaic proximal tandem duplication of 1q included a longer fragment are very rare. Cases who have partial 1q trisomy showed large phenotypic variation due to the differences in size of the duplicated segments of 1q. The clinical phenotype of most cases is characterized by multiple congenital anomalies especially including central nervous system and developmental delay. We describe a prenatally diagnosed case with mild cerebral ventriculomegaly and karyotype with mosaic pure trisomy of chromosome 1q [(46,XX/46,XX,dup(1)(q21qter)]. Phenotypic postmortem examination showed cranial asymmetry, flat and broad nasal bridge, anteverted nostrils, hypertelorism, retrognathia, abnormal pinnae, hypoplasic thumbs, long fingers and toes, mediodorsal curvature of the 4th and 5th toes and posterior prominence of the heel was observed. Autopsy confirmed the ventriculomegaly. Postmortem chromosome preparation from skin culture, cord blood and intracardiac blood confirmed the mosaic pure trisomy of chromosome 1q.
Asunto(s)
Cromosomas Humanos Par 1/genética , Citogenética/métodos , Enfermedades Fetales/diagnóstico , Duplicación de Gen , Mosaicismo , Diagnóstico Prenatal , Trisomía/diagnóstico , Trisomía/genética , Aborto Inducido , Adulto , Aneuploidia , Autopsia , Ventrículos Cerebrales/anomalías , Ecoencefalografía , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Imagen por Resonancia Magnética , FenotipoRESUMEN
The experience on prenatal chromosome diagnosis of four Turkish centers participating in a collaborative study on 6041 genetic amniocentesis performed during a 4-8 years period were reviewed. 5887 (97.5%) patients had strong clinical indications for prenatal chromosome studies and 154 (2.5%) were referred because of maternal anxiety and a bad history of previous gestations. The main indication groups were: advanced maternal age (3197 cases), positive serum screening (2011 cases), ultrasound-identified anomaly (492 cases), previous fetus/child with chromosomal aberrations (103 cases), a history of a previous abnormal and/or mentally handicapped child (70 cases) and a parental chromosome rearrangement (14 cases). The average maternal age was 33.9 years and average gestational age was 18 weeks. A total of 179 affected fetuses were detected in this collaborative study (3%) of which 133 were unbalanced (74.3%). Among the 124 (69%) numerical aberrations, 102 (82.3%) were autosomal aneuploidies, 20 (16.1%) were gonosomal aneuploidies and 2 (1.6%) were poliploidies. Among the 55 (31%) structural aberrations, balanced translocation was the most common (63.6%) and 11 cases of inversion, four cases of unbalanced translocation, two cases of marker chromosome and three cases of other abnormalities were found. The overall culture success rate was 99.7%. Pregnancy termination that is permitted by legal authorities was accepted by 94.7% (126/133) with parents at unbalanced cytogenetic result announcement.
