Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   JULY 2014 , Volume 17 , Number 7; Page(s) 521 To 522.
 
Paper: 

COMPLEX TRANSLOCATION AMONG CHROMOSOMES 2, 3, 9, 15, 18, 20 IN A PATIENT WITH 3P- SYNDROME

 
 
Author(s):  OMRANI MIR DAVOOD*, SALEH GARGARI SORAYA, AZIZI FAEZEH, SAFAVI NAINI NILOUFAR, OMRANI SARA
 
* DEPARTMENT OF MEDICAL GENETICS, FACULTY OF MEDICINE, SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES, KOODAKYAR ST, DANESHJOO BLD., EVIN, CHAMRAN HIGHWAY, TEHRAN, ISLAMIC REP. OF IRAN, POSTAL CODE: 1985717443 IRAN
 
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.

 
Keyword(s): CHROMOSOME 3, MULTIPLE CONGENITAL ANOMALIES, PARTIAL MONOSOMY 3P
 
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