Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion.
10.3343/kjlm.2010.30.1.89
- Author:
Se Jin MUN
1
;
Eun Hae CHO
;
Myoung Jae CHEY
;
Gyu Hong SHIM
;
Bo Moon SHIN
;
Rae Kyung LEE
;
Ji Kyung KO
;
Soo Jin YOO
Author Information
1. Department of Laboratory Medicine, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea. soojyoo@hanmail.net
- Publication Type:Case Reports ; English Abstract
- Keywords:
Inversion;
Recombinant;
Wolf-Hirschhorn syndrome
- MeSH:
*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
- From:The Korean Journal of Laboratory Medicine
2010;30(1):89-92
- CountryRepublic of Korea
- Language:Korean
-
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.
