Ring Chromosome 13 and Ambiguous Genitalia
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, sa.2, ss.122-124, 2014 (SCI-Expanded, Scopus)
- 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.