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

Figure

• 

  Fig. 1. GTG-banded partial karyotypes of chromosome 4 from 3 members of a family. The chromosomes on the right hand side of each of the 3 sets (indicated by arrows) are the abnormal chromosomes. (A) Chromosomes of the father showed balanced pericentric inversion, inv(4)(p16q31.3). (B) Amniotic fluid obtained during the first pregnancy, which ended in abortion (C) peripheral blood of the second offspring. (B) and (C) showed rec(4)dup(4q)-inv(4)(p16q31.3)pat.

• 

  Fig. 2. Results of multiplex ligation-dependent probe amplification (MLPA) obtained using the neonatal peripheral blood samples were analyzed using the Genemarker version 1.6 software. (A) SALSA MLPA kit P069 human telomere-4 showed 2 dots outside the reference range (0.75-1.3) indicating the gain in 4q and the loss in 4p. (B) SALSA MLPA kit P096 mental retardation-2 showed the loss in all 16 probes for 4p, including the Wolf-Hirschhorn syndrome-related genes.

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  Fig. 3. Result of the array comparative genomic hybridization (aCGH) analysis for the neonatal peripheral blood. The y-axis represents the log2 of the intensity ratios of patient/control DNA. The x-axis represents the distance from the 4p telomere of the BAC clones to the site. The arrows indicate the location of the clones flanking the breakpoints. Array CGH showed a loss of 3 Mb on in 4p16.3 and a gain of 38 Mb in 4q31.3-qter.

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