<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Perrone, M D</style></author><author><style face="normal" font="default" size="100%">Rocca, M S</style></author><author><style face="normal" font="default" size="100%">Bruno, I</style></author><author><style face="normal" font="default" size="100%">Faletra, F</style></author><author><style face="normal" font="default" size="100%">Pecile, V</style></author><author><style face="normal" font="default" size="100%">Gasparini, P</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Med Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur J Med Genet</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, Pair 1</style></keyword><keyword><style  face="normal" font="default" size="100%">Dwarfism</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intellectual Disability</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Feb</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">55</style></volume><pages><style face="normal" font="default" size="100%">117-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22186213?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Faletra, F</style></author><author><style face="normal" font="default" size="100%">Berti, I</style></author><author><style face="normal" font="default" size="100%">Tommasini, A</style></author><author><style face="normal" font="default" size="100%">Pecile, V</style></author><author><style face="normal" font="default" size="100%">Cleva, L</style></author><author><style face="normal" font="default" size="100%">Alberini, E</style></author><author><style face="normal" font="default" size="100%">Bruno, I</style></author><author><style face="normal" font="default" size="100%">Gasparini, P</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.</style></title><secondary-title><style face="normal" font="default" size="100%">Dermatology</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Dermatology (Basel)</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, Pair 13</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hypopigmentation</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mosaicism</style></keyword><keyword><style  face="normal" font="default" size="100%">Oligonucleotide Array Sequence Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">225</style></volume><pages><style face="normal" font="default" size="100%">294-7</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/23095783?dopt=Abstract</style></custom1></record></records></xml>