Clinical experience with array CGH: Case presentations from nine months of practice

A total of 124 individuals were tested in the initial 9 months that array CGH technology was offered to clinical genetics patients. In 11 of these patients array CGH identified a previously unsuspected diagnosis. A suspected diagnosis was confirmed in three patients. A single case in this series pro...

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Veröffentlicht in:	American journal of medical genetics. Part A 2006-10, Vol.140A (19), p.2050-2056
Hauptverfasser:	Poss, Alexis F., Goldenberg, Paula C., Rehder, Catherine W., Kearney, Hutton M., Melvin, Elizabeth C., Koeberl, Dwight D., McDonald, Marie T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult and adolescent clinical studies anophthalmia array CGH Biological and medical sciences Child Child, Preschool Chromosome aberrations comprehensive assessment developmental delay Developmental Disabilities - diagnosis Developmental Disabilities - genetics diagnostic yield Diseases of striated muscles. Neuromuscular diseases Duchenne muscular dystrophy Female Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetics, Medical - methods genotype Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Intellectual deficiency Karyotyping Male Medical genetics Medical sciences mental retardation Neurology Oligonucleotide Array Sequence Analysis - methods partial trisomy 13q partial trisomy 1q phenotype Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Sequence Analysis, DNA - methods Sotos syndrome subtelomere Williams syndrome
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Zusammenfassung:	A total of 124 individuals were tested in the initial 9 months that array CGH technology was offered to clinical genetics patients. In 11 of these patients array CGH identified a previously unsuspected diagnosis. A suspected diagnosis was confirmed in three patients. A single case in this series proved to be a polymorphic copy number variant. This paper describes five of the patients with previously unsuspected diagnoses in detail. We suggest that array CGH is an improved tool ready for routine use in clinical genetics. © 2006 Wiley‐Liss, Inc.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.31417