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|Title:||Simultaneous partial monosomy 5p and trisomy 10q.|
|Citation:||Elbistan M. Simultaneous partial monosomy 5p and trisomy 10q. Indian Journal of Pediatrics. 2004 Nov; 71(11): 1041|
|Abstract:||A three-year-old male with distal partial monosomy 5p and distal partial trisomy 10q occurring from a paternal balanced reciprocal translocation involving chromosomes 5 and 10 is described. The karyotype of the proband was found as 46, XY, der (5), t(5;10)(5qter 5p15.3:10q24.3 10qter)pat. His father's karyotype was 46, XY, t(5;10(15qte 5p15.3::q24.3 10 qter; 10pter 10q24.3::5p15.3 5pter) mat. Although, paternal grandmother was found to be carrier of similar translocation. However, mother and uncle had normal karyotypes. The clinical features of the proband are as follows: severe psyschomotor retardation, hypotonia, flat face, high forehead, small nose, depressed nasal bridge, arched eyebrows, microphtalmia, epichantus, short palpebral fissures, blepharophimosis, hypertelorisim, high-arched palate, low-set ears, short neck, laryngomalacia, congenital heart disease (muscular VSD), left coanal atresia and anomalies of hands and feet. The review of the literature seemed to indicate that the case described here with translocation breakpoints and phenotype might be the first case of simultaneous distal partial monosomy 5p and distal partial trisomy 10q.|
|Appears in Collections:||Indian Journal of Pediatrics|
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