Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.

@article{Bhat2006DisruptionOD,
  title={Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.},
  author={Shambhu S Bhat and Karen R Schmidt and Sydney Ladd and Kyoung Chang Kim and Charles E. Schwartz and Richard J. Simensen and Barbara R Dupont and Roger E Stevenson and Anand K. Srivastava},
  journal={Cytogenetic and genome research},
  year={2006},
  volume={112 1-2},
  pages={170-5}
}
We have studied a male patient with significant developmental delay, growth failure, hypotonia, girdle weakness, microcephaly, and multiple congenital anomalies including atrial (ASD) and ventricular (VSD) septal defects. Detailed cytogenetic and molecular analyses revealed three de novo X chromosome aberrations and a karyotype 46,Y,der(X)inv(X) (p11.4q11.2)inv(X)(q11.2q21.32 approximately q22.2)del(X)(q22.3q22.3) was determined. The three X chromosome aberrations in the patient include: a… CONTINUE READING
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