A case of partial trisomy 13 with features similar to 'C' Syndrome

ÇAĞLAYAN A. O., Kokiu E., Saatci C., Kurtoglu S., ÖZKUL Y., DÜNDAR M.

ERCIYES MEDICAL JOURNAL, cilt.29, sa.2, ss.159-163, 2007 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 2
  • Basım Tarihi: 2007
  • Dergi Adı: ERCIYES MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.159-163
  • Anahtar Kelimeler: Chromosomes, human pair 13, Genetic counselling, Trisomy, Translocation, genetic, PATIENT, DIAGNOSIS, 13Q
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.