Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients

Article Article scientifique Article Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients eng 2008 author Martinet Danielle author Filges Isabel 631125 author Besuchet Schmutz Nathalie author Morris Michael Andréw 24090 author Gaide A. C. author Dahoun Sophie 22913 author Bottani Armand 513397 author Addor M. C. author Antonarakis Stylianos 22813 author Beckmann J. S. author Bena Frédérique 2094-2102 10.1002/ajmg.a.32414 18629875 1552-4825 We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5-year-old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype, bilateral embryotoxon, and moderate mental retardation. Further characterization of the deletion, using high-resolution array comparative genomic hybridization (array-CGH; Agilent Human Genome kit 244 K), revealed that Patient 1 has a 8.1 Mb 6pter-6p24.3 deletion associated with a contiguous 5.8 Mb 6p24.3-6p24.1 duplication and Patient 2 a 5.7 Mb 6pter-6p25.1 deletion partially overlapping with that of Patient 1. Complementary FISH and array analysis showed that the inv del dup(6) in Patient 1 originated de novo. Our results demonstrate that simple rearrangements are often more complex than defined by standard techniques. We also discuss genotype-phenotype correlations including previously reported cases of deletion 6p. Abnormalities, Multiple/ genetics Child, Preschool Chromosome Deletion Chromosome Inversion Chromosomes, Human, Pair 6/ genetics Craniofacial Abnormalities/ genetics Developmental Disabilities/ genetics Female Genotype Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Mental Retardation/ genetics Oligonucleotide Array Sequence Analysis Phenotype Dewey 616 56 Département de médecine 221 false American journal of medical genetics. Part A 146A 16 92443c76-2abe-4b1e-830b-7390d9508b91 Article Restricted file1.pdf 232417 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département de médecine

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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	American journal of medical genetics. Part A			2008	684	0

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Filges, Isabel