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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

Published online by Cambridge University Press:  14 February 2001

Nicole Schmidt ,
Don C Van Dyke ,
Kim Keppler-Noreuil ,
Ann Muilenburg ,
Shivanand Patil  and
Adam B Kanis
Nicole Schmidt
Affiliation:
Department of Paediatrics, Children's Hospital of Iowa, Iowa, USA.
Don C Van Dyke
Affiliation:
Division of Developmental Disabilities, Children's Hospital of Iowa, Iowa, USA.
Kim Keppler-Noreuil
Affiliation:
Division of Developmental Disabilities, Children's Hospital of Iowa, Iowa, USA.
Ann Muilenburg
Affiliation:
Division of Medical Genetics, Children's Hospital of Iowa, Iowa, USA.
Shivanand Patil
Affiliation:
Division of Medical Genetics, Children's Hospital of Iowa, Iowa, USA.
Adam B Kanis
Affiliation:
Division of Medical Genetics, Children's Hospital of Iowa, Iowa, USA.
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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.

Type
Case Reports
Information
Developmental Medicine and Child Neurology , Volume 43 , Issue 2 , February 2001 , pp. 130 - 132
Copyright
© 2000 Mac Keith Press

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