Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.
Zou
Ying S
YS
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
Milunsky
Jeff M
JM
D000293:Adolescent; D000328:Adult; D020029:Base Pairing / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017496:Hypopigmentation / Q000150:complications* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D049951:X Chromosome Inactivation / Q000235:genetics*