Mun Se Jin, Cho Eun Hae, Chey Myoung-Jae, Shim Gyu-Hong, Shin Bo-Moon, Lee Rae-Kyung, Ko Ji-Kyung, Yoo Soo Jin
Department of Laboratory Medicine, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
Korean J Lab Med. 2010 Feb;30(1):89-92. doi: 10.3343/kjlm.2010.30.1.89.
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.
4号染色体的臂间倒位可通过4p的重复或缺失产生2条交替的重组（rec）染色体。4p远端的缺失表现为沃尔夫-赫希霍恩综合征（WHS）。在此，我们报告了一名患有46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat的婴儿的分子细胞遗传学发现及临床表现。该婴儿因超声检查发现胸腔积液和羊水过多，于妊娠33周时剖宫产出生。出生时，除了一个耳前皮肤赘生物外，婴儿未表现出畸形或功能障碍。对新生儿外周血样本进行的阵列比较基因组杂交分析显示，4q31.3-qter区域有38 Mb的增益，4p16.3区域有3 Mb的缺失，这些结果与WHS一致。在8个月龄（矫正年龄6个月）的最后一次随访时，该婴儿尚未实现完全的头部控制。
