Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate

SENSES D. A., SILAN F., UZUN H. İ., ALAGOZ D., ZAFER C., KOCABAY K., ...Daha Fazla

GENETIC COUNSELING, cilt.18, sa.2, ss.163-170, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 2
  • Basım Tarihi: 2007
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.163-170
  • Anahtar Kelimeler: 4q trisomy, duplication of 4q, unbalanced translocation of 4q, PARTIAL TRISOMY 4Q, LONG ARM, PARTIAL DUPLICATION, TANDEM DUPLICATION, CHOANAL ATRESIA, 2 SIBLINGS, CHROMOSOME-4, SEGREGATION, PHENOTYPES, DEFECTS
  • Akdeniz Üniversitesi Adresli: Evet

Özet

We describe a male neonate with a duplication of4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect.