Two Cases of Partial Trisomy 4p and Partial Trisomy 14q.
- Author:
Yeo Hyang KIM
1
;
Heung Sik KIM
;
Nam Hee RYOO
;
Jung Sook HA
Author Information
- Publication Type:Case Reports
- Keywords: Trisomy 4p; Ttrisomy 14q; Translocation (4; 14)
- MeSH: Abnormalities, Multiple/*genetics; Child; Child, Preschool; *Chromosomes, Human, Pair 14; *Chromosomes, Human, Pair 4; Female; Humans; Karyotyping; Translocation, Genetic; *Trisomy
- From:Annals of Laboratory Medicine 2013;33(1):69-74
- CountryRepublic of Korea
- Language:English
- Abstract: We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
