Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 203-206

  Cingöz, Sultan ^a,b   Bache, Iben ^b   Bjerglund, Lise ^c   Ropers, Hans Hilger ^d   Tommerup, Niels ^b   Jensen, Hanne ^e   Brøndum Nielsen, Karen ^e   Tümer, Zeynep ^b,e  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c NYKØBING FALSTER HOSPITAL   (Denmark)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e Kennedy Center   (Denmark)

Author keywords

14q; BPES; Developmental delay; Interstitial deletion

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME MAP; CLINICAL EXAMINATION; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; EPICANTHUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LANGUAGE DISABILITY; MALE; PLAGIOCEPHALY; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; DEVELOPMENTAL DISABILITIES; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE; PLAGIOCEPHALY;

EID: 78650675683     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33766     Document Type: Article

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