TRANSLOKASYON TİPİ DOWN SENDROMLU BİR OLGUDA KONJENİTAL HİPOTİROİDİZM

Year 2005, Volume: 6 Issue: 2, 35 - 38, 01.08.2005

A. Kübra Temoçin Hakan Ulucan Tolga Ünüvar Semra Soylu Münevver Türkmen

Abstract

Dismorfik yüz görünümü ve tiroid hormonu değerlerinde düşüklük saptanan kırk iki günlük kız bebekte;translokasyon tipi Down Sendromu ve hipotiroidi birlikteliği saptandı. Olgu; nadir görülen bir translokasyonbulunması yanısıra, hipotiroidinin, sendromun diğer bulguları arasında gözden kaçırılmaması gerektiğine dikkatçekmek için olgu sunuldu

Keywords

Down sendromu, Robertsonyan translokasyon hipotiroidi, t(15, 21).

Presentation of a Case With an Association of Hypothyroidism and Translocation Type Down Syndrome

Abstract

An association between hypothyroidism and translocation type Down syndrome (DS) has been detected in a 42- day-old female baby with facial dysmorphism and low levels of blood thyroid hormones. The case is presented because of the rarity of this type of translocation, and the importance of hypothyroidism among common findings of DS is emphasized.

Keywords

Down syndrome, Robertsonian translocation, congenital hypothyroidism, t(15, 21)

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