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A case of partial trisomy 3p syndrome with rare clinical manifestations / 소아과
Korean Journal of Pediatrics ; : 107-110, 2012.
Article in English | WPRIM | ID: wpr-143963
ABSTRACT
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Trisomy / Chromosomes, Human, Pair 3 / Corpus Callosum / Cytogenetics / Ductus Arteriosus, Patent / Fathers / Agenesis of Corpus Callosum / Karyotype / Genitalia / Heart Defects, Congenital Limits: Female / Humans / Infant, Newborn Language: English Journal: Korean Journal of Pediatrics Year: 2012 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Trisomy / Chromosomes, Human, Pair 3 / Corpus Callosum / Cytogenetics / Ductus Arteriosus, Patent / Fathers / Agenesis of Corpus Callosum / Karyotype / Genitalia / Heart Defects, Congenital Limits: Female / Humans / Infant, Newborn Language: English Journal: Korean Journal of Pediatrics Year: 2012 Type: Article