[Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion].
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.
Mun
Se Jin
SJ
Department of Laboratory Medicine, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
Cho
Eun Hae
EH
Chey
Myoung-Jae
MJ
Shim
Gyu-Hong
GH
Shin
Bo-Moon
BM
Lee
Rae-Kyung
RK
Ko
Ji-Kyung
JK
Yoo
Soo Jin
SJ
D002872:Chromosome Deletion; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D010996:Pleural Effusion / Q000000981:diagnostic imaging; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D014463:Ultrasonography; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*