[Chromosomal abnormality and genetics factors in recurrent pregnancy loss]

Pregnancy loss is a common problem in reproductive-aged women. Although most cases of pregnancy loss are sporadic, some couples experience recurrent pregnancy loss. A variety of possible etiologies have been described for recurrent pregnancy loss. In most cases, the cause is not apparent and often requires intensive and expensive clinical and laboratory investigations, despite which there is still a limited understanding of it. This review focuses on the genetic abnormalities that may contribute to this clinical problem and delineates strategies for genetic evaluation and clinical management in subsequent pregnancies

[Craniosynostosis in a patient with 2q37.3 del 5q34dup: association of extra copy of MSX2 with craniosynostosis]

We report a 1-year-old boy with craniosynostosis, microcephaly, developmental delay and dysmorphic features. His karyotype was 46,XX,add2q. Chromosomal study of parents was normal. The imbalance on chromosome 2 in the patient was further defined using comparative genomic hybridization [CGH], which revealed a loss of material from 2q37.3-qter and a gain of 5q34-qter. Florescent in situ hybridization [FISH] studies using subtelomeric 2q and 5q were used to confirm 2q deletion and 5q duplication. It demonstrated 3 signals for 5q terminal and 1 signal for 2q terminal. FISH studies of parents were normal. Recently it has been proposed that an extra copy of the MSX2 gene that is mapped to 5q35.2 causes premature synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic differentiation. Our case gives further support of the role of extra copy of MSX2 gene leading to craniosynostosis