New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 1, 2008, Pages 93-96

  Schluth, Caroline ^a   Gesny, Roselyne ^b   Borck, Guntram ^b   Redon, Richard ^c   Abadie, Véronique ^a   Kleinfinger, Pascale ^d   Munnich, Arnold ^a   Lyonnet, Stanislas ^a   Colleaux, Laurence ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d LABORATOIRE CERBA   (France)

Author keywords

12(q15 q21) deletion; CGH array; Facial dysmorphism; Mental retardation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; KARYOTYPE; KIDNEY MALFORMATION; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CRANIOFACIAL ABNORMALITIES; DNA; FEMALE; GENETIC MARKERS; HUMANS; KARYOTYPING; MENTAL RETARDATION; MICROSATELLITE REPEATS; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 37549018028     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31869     Document Type: Article

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