Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced tanslocation

• Autorzy: Tinsa F , Chebbi Y , Meddeb M , Bousnina D , Boussetta K , Bousnina S
• Języki publikacji: EN

Abstrakty

EN

A male infant with partial monosomy 10 q and partial trisomy 11q as a result of de novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2009
• Tom: 50
• Numer: 3
• Opis fizyczny: p.289-291, fig.,ref.

Twórcy

autor

Tinsa F

• Department of Paediatrics B of the Children's Hospital of Tunis, Boulevard 9, 1007 Jabbary, Bab Saadoun, Tunisia

autor

Chebbi Y

• Department of Paediatrics B of the Children's Hospital of Tunis, Boulevard 9, 1007 Jabbary, Bab Saadoun, Tunisia

autor

Meddeb M

• Laboratory of Genetics, Tunisia

autor

Bousnina D

• Department of Paediatrics B of the Children's Hospital of Tunis, Boulevard 9, 1007 Jabbary, Bab Saadoun, Tunisia

autor

Boussetta K

• Department of Paediatrics B of the Children's Hospital of Tunis, Boulevard 9, 1007 Jabbary, Bab Saadoun, Tunisia

autor

Bousnina S

• Department of Paediatrics B of the Children's Hospital of Tunis, Boulevard 9, 1007 Jabbary, Bab Saadoun, Tunisia

Bibliografia

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