Ring Chromosome 13 and Ambiguous Genitalia

ÖZSU CAVGA E., Mutlu G. Y., İPEKÇİ B.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, sa.2, ss.122-124, 2014 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/jcrpe.1194
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.122-124
  • Anahtar Kelimeler: Chromosome 13, sexual disorder, microcephaly
  • Ankara Üniversitesi Adresli: Hayır

Özet

Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.