Premium
Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients
Author(s) -
Martinet Danielle,
Filges Isabel,
Besuchet Schmutz Nathalie,
Morris Michael A.,
Gaide AnneClaude,
Dahoun Sophie,
Bottani Armand,
Addor MarieClaude,
Antonarakis Stylianos E.,
Beckmann Jacques S.,
Béna Frédérique
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32414
Subject(s) - subtelomere , characterization (materials science) , computer science , medicine , computational biology , genetics , biology , telomere , materials science , dna , nanotechnology
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. © 2008 Wiley‐Liss, Inc.