A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial tris
A new case of partial trisomy 15q-
β Scribed by A. Geneix; J. Y. Jaffray; P. Malet; E. Foulon; P. Jalbert; P. Crost
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 264 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.
π SIMILAR VOLUMES
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 case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above. 1997 by
Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously report
This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination