RESUMEN
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.
Asunto(s)
Femenino , Humanos , Recién Nacido , Agenesia del Cuerpo Calloso , Cromosomas Humanos Par 3 , Cuerpo Calloso , Citogenética , Conducto Arterioso Permeable , Padre , Genitales , Cardiopatías Congénitas , Hidronefrosis , Hipertensión Pulmonar , Discapacidad Intelectual , Cariotipo , Músculos , TrisomíaRESUMEN
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.
Asunto(s)
Femenino , Humanos , Recién Nacido , Agenesia del Cuerpo Calloso , Cromosomas Humanos Par 3 , Cuerpo Calloso , Citogenética , Conducto Arterioso Permeable , Padre , Genitales , Cardiopatías Congénitas , Hidronefrosis , Hipertensión Pulmonar , Discapacidad Intelectual , Cariotipo , Músculos , TrisomíaRESUMEN
We report a female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. Genitopatellar syndrome is a suggested autosomal recessive disorder, which is characterized by absent patellae, genital and renal anomalies, dysmorphic features, bilateral hypoplasia of the ischia and corpus callosum dysgenesis, mental retardation, micrognathia and swallowing difficulty. External genital anomaly consists of scrotal hyperplasia, clitoris hypertrophy or small clitoris. Possible renal anomalies are multicystic kidneys or hydronephrosis. Dysmorphic features include a coarse face and a broad nose with a high nasal bridge. In our case, the patient has an absent patellae, hydronephrosis, clitoris hypertrophy, dysmorphic features, club foot, corpus callosum dysgenesis, micrognathia and swallowing difficulty.