A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q23 leads to 14 qter) is described. This anomaly arose as a segregation product of a balanced t(14q-,11q+), translocation in the father.
Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22)
β Scribed by Gy. Kovacs; Clara Mihai
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 214 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections are observed in a child with 47,XY,+der(14),t(1;14)(q44;q22)pat.
π SIMILAR VOLUMES
A 3-year-old child with tertiary trisomy (14 (+14q--), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16)(q11;q24) is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.
## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr