We report on a 9 year-old female patient with facial dysmorphisms and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced traslocation 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, revealed by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient well compared 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.
Deletion 2p15-16.1 syndrome: Case Report and Review
PRONTERA, PAOLO;ROGAIA, Daniela;ROMANI, Rita;DONTI, Emilio
2011
Abstract
We report on a 9 year-old female patient with facial dysmorphisms and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced traslocation 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, revealed by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient well compared 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
