Korean J Lab Med.  2010 Feb;30(1):89-92. 10.3343/kjlm.2010.30.1.89.

Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion

• Mun SJ
• Cho EH
• Chey MJ
• Shim GH
• Shin BM
• Lee RK
• Ko JK
• Yoo SJ

• KMID: 1096825
• DOI: http://doi.org/10.3343/kjlm.2010.30.1.89

Abstract

Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.

Keyword

Inversion; Recombinant; Wolf-Hirschhorn syndrome

MeSH Terms

*Chromosome Deletion
*Chromosome Duplication
*Chromosome Inversion
*Chromosomes, Human, Pair 4
Comparative Genomic Hybridization
Female
Gestational Age
Humans
Infant
Pleural Effusion/ultrasonography
Polyhydramnios/ultrasonography
Pregnancy
Wolf-Hirschhorn Syndrome/*genetics