We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and
Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11)
โ Scribed by P. Husslein; W. Schnedl; P. Wagenbichler
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 211 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
A de novo reciprocal translocation 46,XX,t(3;7)(q21;q11), detected at amniocentesis performed because of advanced maternal age, is presented. Both parents showed a normal karyotype. The girl was delivered and has shown no phenotypic abnormality in the first year after birth. Problems encountered with the prediction of the fetal outcome in balanced structural rearrangements are discussed.
๐ SIMILAR VOLUMES
Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11
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