Korean J Pediatr.  2008 Nov;51(11):1241-1244. 10.3345/kjp.2008.51.11.1241.

The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings

• Kim YO
• Cho YK
• Song ES
• Han DK
• Choi IS
• Baek HJ
• Kim CJ
• Woo YJ
• Choi YY

• KMID: 2280252
• DOI: http://doi.org/10.3345/kjp.2008.51.11.1241

Abstract

We report on 2 siblings with a partial trisomy of 7q (7q22-->qter) and concomitant partial monosomy of 8p (8p23.3-->pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

Keyword

Partial trisomy 7q; Partial monosomy 8p

MeSH Terms

Abnormal Karyotype
Chromosome Deletion
Female
Follow-Up Studies
Humans
Male
Phenotype
Siblings
Telomere
Trisomy