TURNER SYNDROME WITH ISOCHROMOSOME Xq AND FAMILIAL RECIPROCAL TRANSLOCATION t(4;16)(p15.2;p13.1)

Cetin Z., MENDİLCİOĞLU İ. İ., Yakut S., Berker-Karauzum S., Karaman B., Luleci G.

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.14, sa.1, ss.57-60, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.2478/v10034-011-0019-y
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.57-60
  • İstanbul Üniversitesi Adresli: Evet

Özet

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45, X, t(4;16) (p15.2;p13.1)[9]/46, X,i(X) (q10), t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45, X, t(4; 16)(p15.2; p13.1) [2]/46, XX, t(4;16)(p15.2;p13.1)[93]/47, XXX, t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).

Abstract: We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45, X, t(4;16) (p15.2;p13.1)[9]/46, X,i(X) (q10), t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45, X, t(4; 16)(p15.2; p13.1) [2]/46, XX, t(4;16)(p15.2;p13.1)[93]/47, XXX, t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).