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

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OMRANI MIR DAVOOD; SALEH GARGARI SORAYA; AZIZI FAEZEH; SAFAVI NAINI NILOUFAR; OMRANI SARA

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2014 | Volume:17 | Issue:7 Page(s): 521-522

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Title

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

Author(s)

Keywords

CHROMOSOME 3

MULTIPLE CONGENITAL ANOMALIES

PARTIAL MONOSOMY 3P

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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APA: Copy

OMRANI, MIR DAVOOD, SALEH GARGARI, SORAYA, AZIZI, FAEZEH, SAFAVI NAINI, NILOUFAR, & OMRANI, SARA. (2014). COMPLEX TRANSLOCATION AMONG CHROMOSOMES 2, 3, 9, 15, 18, 20 IN A PATIENT WITH 3P- SYNDROME. ARCHIVES OF IRANIAN MEDICINE, 17(7), 521-522. SID. https://sid.ir/paper/280998/en

Vancouver: Copy

OMRANI MIR DAVOOD, SALEH GARGARI SORAYA, AZIZI FAEZEH, SAFAVI NAINI NILOUFAR, OMRANI SARA. COMPLEX TRANSLOCATION AMONG CHROMOSOMES 2, 3, 9, 15, 18, 20 IN A PATIENT WITH 3P- SYNDROME. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2014;17(7):521-522. Available from: https://sid.ir/paper/280998/en

IEEE: Copy

MIR DAVOOD OMRANI, SORAYA SALEH GARGARI, FAEZEH AZIZI, NILOUFAR SAFAVI NAINI, and SARA OMRANI, “COMPLEX TRANSLOCATION AMONG CHROMOSOMES 2, 3, 9, 15, 18, 20 IN A PATIENT WITH 3P- SYNDROME,” ARCHIVES OF IRANIAN MEDICINE, vol. 17, no. 7, pp. 521–522, 2014, [Online]. Available: https://sid.ir/paper/280998/en

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