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Deletion 2p15–16.1 syndrome: Case report and review
Author(s) -
Prontera Paolo,
Bernardini Laura,
Stangoni Gabriela,
Capalbo Anna,
Rogaia Daniela,
Romani Rita,
Ardisia Carmela,
Dallapiccola Bruno,
Donti Emilio
Publication year - 2011
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.33875
Subject(s) - chromosomal translocation , chromosomal inversion , genetics , chromosome , biology , breakpoint , genomic dna , dna , karyotype , gene
Abstract We report on a 9‐year‐old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5 Mb of genomic DNA, shown by SNP‐array analysis [arr 2p16.1 (56,706,666–60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations. © 2011 Wiley‐Liss, Inc.