Cat-eye syndrome, a partial trisomy 22
✍ Scribed by Erica M. Bühler; Károly Méhes; Hansjakob Müller; Gerhard R. Stalder
- Publisher
- Springer
- Year
- 1972
- Tongue
- English
- Weight
- 799 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0340-6717
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Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q.
A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY, 22q + karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22qll.l + q11.2. Although no anal abnormality was identified, his manifestations are
The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee