Bulguları C sendromuna benzeyen parsiyel trizomi 13

Objective & Hypothesis:We report a case of partial trisomy 13 with some distinct clinical findings which are similar to the features of ‘C’ syndrome including; trigonocephaly, microcephaly, frontal bossing, forehead and eyelid hemangioma, hypertelorism, upslanting palpebral fissures, apparently low-set ears, rethrognathia, highly arched palate, short neck, widely spaced nipples, foot deformity (spontaneous dorsiflexion of the hallux), failure to thrive, atrial septal defect and ventricular septal defect.

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Key Findings & Data:Her karyotype was 46, XX, der(5) t(5;13)(p15.3;q14.2).

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Conclusion & Impact:Genetic counselling was given to the family for reproductive risks.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

We report a case of partial trisomy 13 with some distinct clinical findings which are similar to the features of ‘C’ syndrome including; trigonocephaly, microcephaly, frontal bossing, forehead and eyelid hemangioma, hypertelorism, upslanting palpebral fissures, apparently low-set ears, rethrognathia, highly arched palate, short neck, widely spaced nipples, foot deformity (spontaneous dorsiflexion of the hallux), failure to thrive, atrial septal defect and ventricular septal defect. Her karyotype was 46, XX, der(5) t(5;13)(p15.3;q14.2). In the family, a phenotypically normal father had balanced translocation between chromosome 5 and chromosome 13, and the proband has received the recombinant 5 from the father. The father karyotype was 46, XY, t(5;13)(p15.3;q14.2). Genetic counselling was given to the family for reproductive risks.

Özet

Burada triganosefali, mikrosefali, frontal bossing, alın ve göz kapağında hemanjiom, hipertelorism, yukarı eğimli palpebral fissür, belirgin düşük yerleşimli kulaklar, retrognati, yüksek damak, kısa boyun, ayrık meme ucu, ayak deformitesi ( ayak başparmağının spontan dorsifeleksiyonu), yutma güçlüğü, atrial septal defekt ve ventriküler septal defekt gibi ‘C’ sendromuna benzer bazı ayırt edici bulgulara sahip parsiyel trizomi 13 vakası sunulmuştur. Vakanın karyotipi 46, XX, der(5) t(5;13)(p15,3; q14,2) idi. Aileye yapılan kromozom analizinde, fenotipik olarak normal olan babada 5. ve 13. kromozom arasında dengeli translokasyon saptandı [46, XY, t(5;13)(p15,3; q14,2)] ve probandın babadan rekombinant 5.kromozomu alarak dengesiz karyotipe sahip olduğu anlaşıldı. Aileye ileride doğabilecek çocukları için genetik danışma verildi.

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Cite This Article

DÜNDAR, M., ÖZKUL, Y., ÇAĞLAYAN, M. O., KÖKLÜ, E., KURTOĞLU, S., SAATÇİ, Ç. (2022). Bulguları C sendromuna benzeyen parsiyel trizomi 13. Erciyes Tıp Dergisi, Cilt: 29 - Sayı: 2, 159–163. https://ajindex.com/articles/502745

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