To the best of our knowledge, this is the first insight into the possible link between ITGA9 and CC in human fetuses. The identification of pathogenetic mutations and their possible link to the clinical responses of particular treatments may contribute to better pregnancy counseling and management.

Here we report on a girl with minor facial anomalies, cleft palate, seizures, microcephaly, psychomotor retardation, and a congenital heart defect. Complex of cytogenetic methods [GTG-banding, spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), multicolor banding (mBAND), and comparative genomic hybridization (array CGH)] showed complex chromosomal rearrangements (CCRs) involving chromosomes 6, 10, and 11 and 4 deletions at the breakpoints. Her father had an unrelated translocation between chromosomes 3 and 16, suggesting the possibility of an autosomal dominant trait that predisposes to complex synapses and recombination between multiple chromosomes during meiosis. This study demonstrates the power of combining available chromosome analysis technologies in resolving CCR.

Restrictive dermopathy (RD; OMIM 275210) is an extremely rare but lethal disorder that causes either stillbirth or early neonatal death. It is generally diagnosed postnatally by tight adherent skin, multiple joint contractures, distinctive facies, superficial vasculature, and pulmonary hypoplasia. Yet only a few of fetal features, including intrauterine growth retardation, decreased fetal movement, polyhydramnios, fixed open mouth and preterm rupture of membranes, have occasionally been reported [Mau et al., 1997;van der Stege et al., 1997;Wesche et al., 2001]. RD was suggested following an autosomal recessive inheritance since its prevalence in consanguineous siblings. Recently, mutations in ZMPSTE24 and LMNA were found to be associated with RD [Navarro et al., 2004. Here, we report the identification of a novel, biparental-origin homozygous ZMPSTE24 nonsense mutation in a neonate with clinical features of RD. We also report the clinical findings (prenatally and postnatally) including an uncommon fetal condition of spontaneous complete chorioamniotic membrane separation (CCMS) in our patient, providing a better understanding of the rare, devastating condition.Our patient is a female infant who was born at 33 weeks gestation (wGA) from a G2P1 31-year-old Taiwanese aboriginal woman. The

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