A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 mi
โฆ LIBER โฆ
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3
โ Scribed by Tzschach, Andreas; Hoeltzenbein, Maria; Hoffmann, Kirsten; Menzel, Corinna; Beyer, Alexander; Ocker, Volker; Wurster, Goetz; Raynaud, Martine; Ropers, Hans-Hilger; Kalscheuer, Vera
- Book ID
- 110026808
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 99 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1018-4813
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We present a 6-year-old girl with a balanced 11;20 translocation [46,XX,t(11;20)(q13.1; q13.13)patl, asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. This case represents the second report of an individual with situs abnormalities and a balanced chromosome
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