Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 159-165

  Millson, Alison ^a   Lagrave, Danielle ^b   Willis, Mary J H ^c   Rowe, Leslie R ^a   Lyon, Elaine ^a,d   South, Sarah T ^a,b,d  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b ARUP LABORATORIES   (United States)

^c NAVAL MEDICAL CENTER SAN DIEGO   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Array CGH; Microdeletion; NLGN1

Indexed keywords

DNA; LACTIC ACID; N ACETYLASPARTIC ACID; NEUROLIGIN 1;

ARTICLE; BRAIN DISEASE; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 3Q; CHROMOSOME LOSS; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EYE MOVEMENT DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENOME SIZE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LABORATORY TEST; MICROARRAY ANALYSIS; MICROCEPHALY; MYOCLONUS SEIZURE; NAALADL2 GENE; NEUROLIGIN 1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PREECLAMPSIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEIZURE; SHORT STATURE; TONIC SEIZURE; WALKING DIFFICULTY; WHITE MATTER;

ABNORMALITIES, MULTIPLE; CELL ADHESION MOLECULES, NEURONAL; CHILD; CHROMOSOME DELETION; EPILEPSY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOMICS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MICROARRAY ANALYSIS; MICROCEPHALY; MUTATION; PHENOTYPE;

EID: 84355162787     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34349     Document Type: Article

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