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.
Partial 9q trisomy associated with a 9,21 translocation
โ Scribed by Yves Chamla; Catherine Bilbeissi; Marguerite Micheau; Jacques Battin
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 403 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
A new case of partial trisomy 9q was found in a child presenting two de novo aberrations: a deletion of the long arms of 9 and a 9,21 translocation. A tentative cytogenetic explanation is put forward.
๐ SIMILAR VOLUMES
A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba
We report on a female infant with partial trisomy 9p (pterโp13) and partial trisomy 14q (pterโq22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern
A 2-year-old male, birth weight 3,100g with malformations and severe mental retardation had the karyotype 46,XY,der ( 9), (9qter--+9p24::18q21-->18qter)mat. Clinical features were round face, low set ears, high hair implantation, short and round nose, retrognatia, bilateral cryptorchidism, severe ps