Deletion of 14.7Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2347-2351

  Tomaszewska, Agnieszka ^a   Podbiol Palenta, Agnieszka ^a   Boter, Marjan ^b   Geisler, Gabriela ^a   Wawrzkiewicz Witkowska, Angelika ^a   Galjaard, Robert Jan H ^b   Zajaczek, Stanislaw ^c   Srebniak, Malgorzata I ^b  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

2q32q33 deletion; BMPR2; Growth deficiency; Hypothyroidism; Mental disability; SNP array; Speech delay; Tactile hypersensitivity

Indexed keywords

CD28 ANTIGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4;

ARTICLE; CASE REPORT; CD28 GENE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 2Q32.3Q33.3; CLINICAL FEATURE; COGNITIVE DEFECT; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4 GENE; FETUS ECHOGRAPHY; HUMAN; HYPOTHYROIDISM; INFANT; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; 2Q32Q33 DELETION; BMPR2; CHROMOSOME 2; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; GENETICS; GROWTH RETARDATION; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; SNP ARRAY; SPEECH DELAY; TACTILE HYPERSENSITIVITY; ABNORMALITIES, MULTIPLE;

2Q32Q33 DELETION; BMPR2; GROWTH DEFICIENCY; HYPOTHYROIDISM; MENTAL DISABILITY; SNP ARRAY; SPEECH DELAY; TACTILE HYPERSENSITIVITY;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; HUMANS; HYPOTHYROIDISM; INFANT; MALE; PHENOTYPE;

EID: 84881666122     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36076     Document Type: Article

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