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Case Reports
. 2013;24(2):179-84.

Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation

T Atik  1 , B Durmaz, O U Yorganci, O Cogulu, M Kioutsouk, F Ozkinay
Affiliations
  • PMID: 24032288
Case Reports

Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation

T Atik et al. Genet Couns. 2013.

Abstract

This is a report of a 6 month-old boy with a partial trisomy 2p24-->pter and monosomy 18q22-->qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI showed mild ventricular dilatation. Cytogenetic analysis of the patient and his parents revealed a karyotype 46,XY, der(18), t(2;18)(p24;q22)mat in the patient. Subtelomeric FISH analysis confirmed the cytogenetic findings. Phenotypic features were consistent with either partial trisomy 2p or deletion 18q.

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