J Korean Soc Neonatol.  2009 May;16(1):76-80.

A Case of a del(8p)/dup(8q) Recombinant Chromosome

• Kim JY
• Im HB
• Son SH
• Jeong SY
• Sung MJ
• Seo SS

Abstract

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.1). Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1-->qter. Because 8p21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

Keyword

Deletion 8p; Duplication 8q

MeSH Terms

Chromosome Deletion
Chromosomes, Human, Pair 8
Constitution and Bylaws
Fathers
Female
Fetal Growth Retardation
Foot
Hand
Heart Septal Defects, Atrial
Humans
Hydronephrosis
Hypospadias
Lymphocytes
Macrophages
Male
Mothers
Neck
Pulmonary Valve Stenosis
Trisomy
Chromosome Deletion
Chromosomes, Human, Pair 8
Trisomy