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Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

  • Nicole Schmidt (a1), Don C Van Dyke (a2), Kim Keppler-Noreuil (a2), Ann Muilenburg (a3), Shivanand Patil (a3) and Adam B Kanis (a3)...

Abstract

A male child with multiple congenital anomalies and developmental delay is described. Cytogenetic evaluation showed that the patient was partially monosomic for the short arm of chromosome 18 and partially trisomic for the short arm of chromosome 16: a combination of chromosomal syndromes not previously described.

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Corresponding author

Division of Developmental Disabilities, University Hospital School, The University of Iowa Hospitals and Clinics, Iowa, 100 Hawkins Drive, Room 213, Iowa City, IA 52242, USA. E-mail: don-vandyke@uiowa.edu

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16

  • Nicole Schmidt (a1), Don C Van Dyke (a2), Kim Keppler-Noreuil (a2), Ann Muilenburg (a3), Shivanand Patil (a3) and Adam B Kanis (a3)...

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