Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22)

Balci, S.; Engiz, O.; Yilmaz, Z.; Baltaci, V.

Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22)

Balci S., Engiz O., Yilmaz Z., Baltaci V.

GENETIC COUNSELING, cilt.17, sa.3, ss.281-289, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 17 Sayı: 3
Basım Tarihi: 2006
Dergi Adı: GENETIC COUNSELING
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.281-289
Hacettepe Üniversitesi Adresli: Hayır

Özet

Here we report a 15-year-old girl patient who had severe mental and growth retardation, cleft palate, hemifacial microsomia, skin tags, hypoplasia of the external auditory canal, scoliosis and renal agenesis. Our patient was the fourth child of nonconsanguineous marriage.