Arch Iran Med. 2014;17(7):0-0.
PMID: 24979567
Scopus id: 84904202949
  Abstract View: 469
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Case Report

Complex Translocation among Chromosomes 2, 3, 9, 15, 18, 20 in a Patient With 3p- Syndrome

Abstract

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient’s clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just losing the telomeric portion (3p-25.3) of the short arm of one of her chromosomes 3. Her karyotype was 46, XX, t(2;18) (p12;q12.1) , del(3) (p23p26), t(3; 9 ;15; 20) (q13; p23;q12; p12). Her parents showed a normal karyotype pattern.

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First published online: 01 Jul 2014
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