Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature

HACIHANEFIOGLU S., GUVEN G., Deviren A., Silahtaroğlu A., FENERCI E., OZKILIC A., ...Daha Fazla

GENETIC COUNSELING, cilt.13, sa.1, ss.41-48, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 1
  • Basım Tarihi: 2002
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.41-48
  • İstanbul Üniversitesi Adresli: Evet

Özet

Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature: We report an eleven years old boy and his fourteen years old brother who both have trisomy 9p syndrome. Their cytogenetic analysis using GTL-banding showed 46,XYder(22)add(22) (p11) karyotype. Cytogenetic analysis of their mother and sister revealed a karyogram designated as 46,X-X,t(9;22) (9pter-->9p12::22p11-->22qter). With the help of FISH technique, the derivative chromosome in the proband was further confirmed to be a translocation chromosome 22 carrying the aforementioned segments from chromosome 9 which originated from a segregation event of a mother's balanced translocation. Regarding clinical aspects of our cases, both showed similar findings of 9p trisomy syndrome but low frontal hairline, circular placement of the hair around the face and scarce, inverted eyebrows, findings not previously mentioned in the literature. We conclude that these new clinical findings could be used in the clinical diagnosis of the 9p trisomy syndrome along with the other well-documented symptoms.